A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608966



Internal ID16049689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147877387..147891676hg38UCSC Ensembl
Innerchr7:147574479..147588768hg19UCSC Ensembl
Innerchr7:147205412..147219701hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3814290
hg1914290
hg1814290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1098098
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608966
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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