A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699189



Internal ID15435841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216096798..216104519hg38UCSC Ensembl
Innerchr2:216961521..216969242hg19UCSC Ensembl
Innerchr2:216669766..216677487hg18UCSC Ensembl
Innerchr2:216787027..216794748hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg387722
hg197722
hg187722
hg177722
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523434
Supporting Variants
Samples
Known GenesTMEM169
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699189
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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