A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590248



Internal ID16030971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:48679560..48690203hg38UCSC Ensembl
Innerchr3:48716993..48727636hg19UCSC Ensembl
Innerchr3:48691997..48702640hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3810644
hg1910644
hg1810644
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv963015
Samples
Known GenesIP6K2, NCKIPSD
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590248
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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