A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13683341



Internal ID21205198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223636620..223636620hg38UCSC Ensembl
chr1:223824322..223824322hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2801556
Supporting Variants
Samples
Known GenesCAPN8
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13683341
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1


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