A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15186656



Internal ID21325481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31823409..31823409hg38UCSC Ensembl
chr2:32048478..32048478hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg382035
hg192035
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3954146
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15186656
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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