A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581644



Internal ID16022367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42752929..42787149hg38UCSC Ensembl
Innerchr2:42980069..43014289hg19UCSC Ensembl
Innerchr2:42833573..42867793hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3834221
hg1934221
hg1834221
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150423
SamplesHGDP00656
Known GenesHAAO, MTA3, OXER1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581644
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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