A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032745



Internal ID19121967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146529206..146561746hg38UCSC Ensembl
Innerchr7:146226298..146258838hg19UCSC Ensembl
Innerchr7:145857231..145889771hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3832541
hg1932541
hg1832541
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6747n100
Supporting Variantsnssv3674210, nssv3674208, nssv3674209
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032745
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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