A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522458



Internal ID15103065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82253593..82268287hg38UCSC Ensembl
Innerchr7:81882909..81897603hg19UCSC Ensembl
Innerchr7:81720845..81735539hg18UCSC Ensembl
Innerchr7:81527560..81542254hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3814695
hg1914695
hg1814695
hg1714695
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705821
Samples
Known GenesCACNA2D1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522458
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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