A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3469551



Internal ID18716756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9255788..9342344hg38UCSC Ensembl
Innerchr1:9315847..9402403hg19UCSC Ensembl
Innerchr1:9238434..9324990hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3886557
hg1986557
hg1886557
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1004906
Supporting Variants
Samples
Known GenesH6PD, SPSB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3469551
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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