A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000112



Internal ID18742643
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 StatusM
Merged Variantsdgv132n100
Supporting Variantsnssv3700857, nssv3480761
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)nsv1000112
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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