A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010348



Internal ID19099565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:54401536..54474088hg38UCSC Ensembl
Innerchr3:54435563..54508115hg19UCSC Ensembl
Innerchr3:54410603..54483155hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3872553
hg1972553
hg1872553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3593379
Samples
Known GenesCACNA2D3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010348
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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