A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3480761



Internal ID18722665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:24981181..25393108hg38UCSC Ensembl
Innerchr1:25307672..25719599hg19UCSC Ensembl
Innerchr1:25180259..25592186hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38411928
hg19411928
hg18411928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000112
Supporting Variants
Samples
Known GenesC1orf63, RHCE, RHD, SYF2, TMEM50A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3480761
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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