A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3478379



Internal ID18721377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25235596..25336807hg38UCSC Ensembl
Innerchr1:25562087..25663298hg19UCSC Ensembl
Innerchr1:25434674..25535885hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38101212
hg19101212
hg18101212
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014746
Supporting Variants
Samples
Known GenesC1orf63, RHD
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3478379
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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