A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699919



Internal ID15089885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:36727446..36779629hg38UCSC Ensembl
Innerchr6:36695223..36747406hg19UCSC Ensembl
Innerchr6:36803201..36855384hg18UCSC Ensembl
Innerchr6:36803201..36855384hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3852184
hg1952184
hg1852184
hg1752184
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524053
Supporting Variants
Samples
Known GenesCPNE5, RAB44
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699919
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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