A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518794



Internal ID15099401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82251380..82263646hg38UCSC Ensembl
Innerchr7:81880696..81892962hg19UCSC Ensembl
Innerchr7:81718632..81730898hg18UCSC Ensembl
Innerchr7:81525347..81537613hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3812267
hg1912267
hg1812267
hg1712267
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696249
Samples
Known GenesCACNA2D1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518794
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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