A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13680319



Internal ID21202182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7885317..7885317hg38UCSC Ensembl
chr17:7788635..7788635hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2797950
Supporting Variants
Samples
Known GenesCHD3
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13680319
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.192308


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