A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003621



Internal ID18746152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53371619..54391295hg38UCSC Ensembl
Innerchr3:53405646..54425322hg19UCSC Ensembl
Innerchr3:53380686..54400362hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg381019677
hg191019677
hg181019677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3731120
Samples
Known GenesACTR8, CACNA1D, CACNA2D3, CHDH, IL17RB, MIR1303, SELK
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003621
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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