A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608942



Internal ID16049665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146758386..146866625hg38UCSC Ensembl
Innerchr7:146455478..146563717hg19UCSC Ensembl
Innerchr7:146086411..146194650hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38108240
hg19108240
hg18108240
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1097951
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608942
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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