A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527018



Internal ID15454311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147640650..147663725hg38UCSC Ensembl
Innerchr7:147337742..147360817hg19UCSC Ensembl
Innerchr7:146968675..146991750hg18UCSC Ensembl
Innerchr7:146775390..146798465hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3823076
hg1923076
hg1823076
hg1723076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv434n21
Supporting Variantsnssv703393
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527018
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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