A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030382



Internal ID19119601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146529206..146562629hg38UCSC Ensembl
Innerchr7:146226298..146259721hg19UCSC Ensembl
Innerchr7:145857231..145890654hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3833424
hg1933424
hg1833424
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6747n100
Supporting Variantsnssv3757717, nssv3674211
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)nsv1030382
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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