A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv706080



Internal ID15096046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:52495533..52506621hg38UCSC Ensembl
Innerchr6:52360331..52371419hg19UCSC Ensembl
Innerchr6:52468290..52479378hg18UCSC Ensembl
Innerchr6:52468290..52479378hg17UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3811089
hg1911089
hg1811089
hg1711089
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522674
Supporting Variants
Samples
Known GenesEFHC1, TRAM2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv706080
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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