A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590149



Internal ID16030872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:42926105..43133715hg38UCSC Ensembl
Innerchr3:42967597..43175207hg19UCSC Ensembl
Innerchr3:42942601..43150211hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38207611
hg19207611
hg18207611
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv962435
Samples
Known GenesFAM198A, KRBOX1, POMGNT2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590149
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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