A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521212



Internal ID15101819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146840669..146849917hg38UCSC Ensembl
Innerchr7:146537761..146547009hg19UCSC Ensembl
Innerchr7:146168694..146177942hg18UCSC Ensembl
Innerchr7:145975409..145984657hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg389249
hg199249
hg189249
hg179249
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697848
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521212
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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