A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17722880



Internal ID146546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:33425684..34028349hg38UCSC Ensembl
chr19:33916590..34519254hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38602666
hg19602665
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525174
Supporting Variants
Samples
Known GenesCHST8, KCTD15, PEPD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17722880
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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