A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17528713



Internal ID21853070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71479156..71479156hg38UCSC Ensembl
chr2:71706286..71706286hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6052666
Supporting Variants
Samples
Known GenesDYSF
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17528713
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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