A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3578988



Internal ID18530583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20129133..20215407hg38UCSC Ensembl
Innerchr2:20328894..20415168hg19UCSC Ensembl
Innerchr2:20192375..20278649hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3886275
hg1986275
hg1886275
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1012841
Supporting Variants
Samples
Known GenesSDC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3578988
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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