A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3467731



Internal ID18715785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25247968..25346651hg38UCSC Ensembl
Innerchr1:25574459..25673142hg19UCSC Ensembl
Innerchr1:25447046..25545729hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3898684
hg1998684
hg1898684
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009563
Supporting Variants
Samples
Known GenesRHD, TMEM50A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3467731
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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