A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704582



Internal ID128248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11567146..11568104hg38UCSC Ensembl
chr16:11661002..11661960hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38959
hg19959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524656
Supporting Variants
Samples
Known GenesLITAF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704582
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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