A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700477



Internal ID15437129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146301019..146389230hg38UCSC Ensembl
Innerchr7:145998111..146086322hg19UCSC Ensembl
Innerchr7:145629044..145717255hg18UCSC Ensembl
Innerchr7:145435759..145523970hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3888212
hg1988212
hg1888212
hg1788212
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524528
Supporting Variants
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700477
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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