A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13678631



Internal ID21200486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80180304..80180304hg38UCSC Ensembl
chr12:80574084..80574084hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2792514
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13678631
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.793103


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