A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3473817



Internal ID18718976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:24981181..25380521hg38UCSC Ensembl
Innerchr1:25307672..25707012hg19UCSC Ensembl
Innerchr1:25180259..25579599hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38399341
hg19399341
hg18399341
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1005598
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)nssv3473817
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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