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Issues: genome-in-a-bottle/HG008-curations

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Issues list

[chr1:1-23272628][CNLOH][DUP of first 23Mbp of remaining copy of chr1p] CNA Copy Number Aberrations >1Mbp CNLOH Copy neutral loss of heterozygosity
#8 opened Jun 10, 2024 by jzook
@jzook
Somatic VNTR expansion around chr1:224013772 Tandem repeat Expansion/contraction of tandem repeat
#6 opened May 11, 2024 by jzook
95636bp mosaic tandem duplication at chr1:225835501-225931137 DUP Duplication 50bp to 1Mbp Mosaic Variant in only some cells
#5 opened May 10, 2024 by jzook
Tandem duplication of 326593bp at chr1:160367322-160693915 DUP Duplication 50bp to 1Mbp Mosaic Variant in only some cells
#4 opened May 10, 2024 by jzook
172bp mosaic DEL at chr1:151220118-151220291 DEL Deletion 50bp to 1Mbp
#3 opened May 10, 2024 by jzook
1
Translocation between chr1:23272628 and chr5:52747359 that causes duplication of first part of chr1 and deletion of chr5q SV Structural variant
#2 opened May 8, 2024 by jzook
2
CNLOH from ~start of chr1 to chr1:23272628 CNA Copy Number Aberrations >1Mbp CNLOH Copy neutral loss of heterozygosity
#1 opened May 8, 2024 by jzook
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