A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713262



Internal ID136928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43835490..43836554hg38UCSC Ensembl
chr17:41912858..41913922hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381065
hg191065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520070
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713262
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001405


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