A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15189766



Internal ID21328609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56731592..56731592hg38UCSC Ensembl
chr3:56765620..56765620hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3932798
Supporting Variants
SamplesHG002
Known GenesARHGEF3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15189766
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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