A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592793



Internal ID16380202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:190020362..190040309hg38UCSC Ensembl
Innerchr3:189738151..189758098hg19UCSC Ensembl
Innerchr3:191220845..191240792hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3819948
hg1919948
hg1819948
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv983231
Samples
Known GenesLEPREL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592793
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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