A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608960



Internal ID16049683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147583225..147585926hg38UCSC Ensembl
Innerchr7:147280317..147283018hg19UCSC Ensembl
Innerchr7:146911250..146913951hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg382702
hg192702
hg182702
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1098080
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608960
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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