A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584704



Internal ID16025427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233618034..233660491hg38UCSC Ensembl
Innerchr2:234526680..234569137hg19UCSC Ensembl
Innerchr2:234191419..234233876hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3842458
hg1942458
hg1842458
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933639
Samples
Known GenesUGT1A10, UGT1A8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584704
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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