A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv681259



Internal ID15417911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:55034228..55055047hg38UCSC Ensembl
Innerchr3:55068255..55089074hg19UCSC Ensembl
Innerchr3:55043295..55064114hg18UCSC Ensembl
Innerchr3:55043295..55064114hg17UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3820820
hg1920820
hg1820820
hg1720820
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516234
Supporting Variants
Samples
Known GenesCACNA2D3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv681259
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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