A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17722651



Internal ID146317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29458874..29464874hg38UCSC Ensembl
chr19:29949781..29955781hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145609
Supporting Variants
Samples
Known GenesLOC284395
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17722651
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002029


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