A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15188523



Internal ID21327356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193511680..193511680hg38UCSC Ensembl
chr3:193229469..193229469hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3953781
Supporting Variants
SamplesHG002
Known GenesATP13A4
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15188523
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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