A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724558



Internal ID148224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43069993..43075601hg38UCSC Ensembl
chr17:41222010..41227618hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg385609
hg195609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527180
Supporting Variants
Samples
Known GenesBRCA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724558
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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