A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546433



Internal ID15987156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:63288065..63537185hg38UCSC Ensembl
Innerchr1:63753736..64002856hg19UCSC Ensembl
Innerchr1:63526324..63775444hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38249121
hg19249121
hg18249121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173003
SamplesHGDP00935
Known GenesALG6, EFCAB7, FOXD3, ITGB3BP, LINC00466, MIR6068
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546433
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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