A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517352



Internal ID15097959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146842264..146842318hg38UCSC Ensembl
Innerchr7:146539356..146539410hg19UCSC Ensembl
Innerchr7:146170289..146170343hg18UCSC Ensembl
Innerchr7:145977004..145977058hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
hg1755
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv653864, nssv675802, nssv658463, nssv660806, nssv674915, nssv679865, nssv674692
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517352
Frequency
Sample Size2026
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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