A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024692



Internal ID18767224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146685669..146718786hg38UCSC Ensembl
Innerchr7:146382761..146415878hg19UCSC Ensembl
Innerchr7:146013694..146046811hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3833118
hg1933118
hg1833118
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3674220
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)nsv1024692
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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