A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514323



Internal ID290821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43102678..43183624hg38UCSC Ensembl
chr17:41254695..41335641hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3880947
hg1980947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724560
Samples
Known GenesBRCA1, NBR1, NBR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514323
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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