A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699466



Internal ID15089432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82288755..82294125hg38UCSC Ensembl
Innerchr7:81918071..81923441hg19UCSC Ensembl
Innerchr7:81756007..81761377hg18UCSC Ensembl
Innerchr7:81562722..81568092hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg385371
hg195371
hg185371
hg175371
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523665
Supporting Variants
Samples
Known GenesCACNA2D1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699466
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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