A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590273



Internal ID16030996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50536782..50640720hg38UCSC Ensembl
Innerchr3:50574213..50678151hg19UCSC Ensembl
Innerchr3:50549217..50653155hg18UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg38103939
hg19103939
hg18103939
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151774
SamplesHGDP00602
Known GenesC3orf18, CISH, HEMK1, MAPKAPK3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590273
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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