A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517265



Internal ID15444558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:54768324..54769494hg38UCSC Ensembl
Innerchr3:54802351..54803521hg19UCSC Ensembl
Innerchr3:54777391..54778561hg18UCSC Ensembl
Innerchr3:54777391..54778561hg17UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg381171
hg191171
hg181171
hg171171
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv670077, nssv688125, nssv686110, nssv659993, nssv659383, nssv674662, nssv682849, nssv678815, nssv686502, nssv660133, nssv655455, nssv674003, nssv670321, nssv693786, nssv685379, nssv675473, nssv652254, nssv693642, nssv654160, nssv690684, nssv662411, nssv663154, nssv690079, nssv686904, nssv685763, nssv667627, nssv693212, nssv678125, nssv670563, nssv684425, nssv685946, nssv655910, nssv662605, nssv691777, nssv676159, nssv685251, nssv692128, nssv676615
Samples
Known GenesCACNA2D3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517265
Frequency
Sample Size2026
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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