A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15188111



Internal ID21326944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237457730..237457730hg38UCSC Ensembl
chr2:238366373..238366373hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3931242
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15188111
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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