A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13695289



Internal ID21217138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52696931..52696931hg38UCSC Ensembl
chr3:52730947..52730947hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2808718
Supporting Variants
Samples
Known GenesGLT8D1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13695289
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.3125


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