A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15188113



Internal ID21326946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237610917..237610917hg38UCSC Ensembl
chr2:238519560..238519560hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3931653
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15188113
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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