A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526693



Internal ID15107300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147314296..147357158hg38UCSC Ensembl
Innerchr7:147011388..147054250hg19UCSC Ensembl
Innerchr7:146642321..146685183hg18UCSC Ensembl
Innerchr7:146449036..146491898hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3842863
hg1942863
hg1842863
hg1742863
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703030
Samples
Known GenesCNTNAP2, MIR548I4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526693
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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