A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591800



Internal ID16379209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:132819608..132934501hg38UCSC Ensembl
Innerchr3:132538452..132653345hg19UCSC Ensembl
Innerchr3:134021142..134136035hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38114894
hg19114894
hg18114894
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152021
Samples1780854159_A
Known GenesNPHP3-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591800
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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