A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3593372



Internal ID18544967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53815483..54251185hg38UCSC Ensembl
Innerchr3:53849510..54285212hg19UCSC Ensembl
Innerchr3:53824550..54260252hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38435703
hg19435703
hg18435703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006990
Supporting Variants
Samples
Known GenesACTR8, CACNA2D3, 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)nssv3593372
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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