A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723776



Internal ID147442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47479551..47479608hg38UCSC Ensembl
chr19:47982808..47982865hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529144
Supporting Variants
Samples
Known GenesKPTN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723776
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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