A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697602



Internal ID15434254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71503916..71606406hg38UCSC Ensembl
Innerchr2:71731046..71833536hg19UCSC Ensembl
Innerchr2:71584554..71687044hg18UCSC Ensembl
Innerchr2:71642701..71745191hg17UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38102491
hg19102491
hg18102491
hg17102491
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520774
Supporting Variants
Samples
Known GenesDYSF
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697602
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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