A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608968



Internal ID16396377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148377131..148378994hg38UCSC Ensembl
Innerchr7:148074223..148076086hg19UCSC Ensembl
Innerchr7:147705156..147707019hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg381864
hg191864
hg181864
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11711n54
Supporting Variantsnssv1098105, nssv1098103, nssv1098104, nssv1098101, nssv1098102
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608968
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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