A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546436



Internal ID15987159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64205389..64269305hg38UCSC Ensembl
Innerchr1:64671072..64734988hg19UCSC Ensembl
Innerchr1:64443660..64507576hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3863917
hg1963917
hg1863917
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv716138
Samples
Known GenesUBE2U
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546436
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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