A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3475189



Internal ID18719681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:46622444..46663916hg38UCSC Ensembl
Innerchr1:47088116..47129588hg19UCSC Ensembl
Innerchr1:46860703..46902175hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3841473
hg1941473
hg1841473
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1007280
Supporting Variants
Samples
Known GenesATPAF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3475189
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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