A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018605



Internal ID18761138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146590784..146751308hg38UCSC Ensembl
Innerchr7:146287876..146448400hg19UCSC Ensembl
Innerchr7:145918809..146079333hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38160525
hg19160525
hg18160525
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3674216
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)nsv1018605
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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