A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013783



Internal ID18756315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53660391..53900754hg38UCSC Ensembl
Innerchr3:53694418..53934781hg19UCSC Ensembl
Innerchr3:53669458..53909821hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38240364
hg19240364
hg18240364
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3593365
Samples
Known GenesACTR8, CACNA1D, CHDH, IL17RB, SELK
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013783
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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