A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002452



Internal ID19091669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53708121..53768784hg38UCSC Ensembl
Innerchr3:53742148..53802811hg19UCSC Ensembl
Innerchr3:53717188..53777851hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3860664
hg1960664
hg1860664
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3593367
Samples
Known GenesCACNA1D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002452
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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