A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584705



Internal ID16025428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233749977..233756891hg38UCSC Ensembl
Innerchr2:234658623..234665537hg19UCSC Ensembl
Innerchr2:234323362..234330276hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg386915
hg196915
hg186915
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933640
Samples
Known GenesLOC100286922, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584705
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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