A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13687764



Internal ID21209617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71479163..71479163hg38UCSC Ensembl
chr2:71706293..71706293hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2807677
Supporting Variants
Samples
Known GenesDYSF
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13687764
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.241935


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