A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592012



Internal ID16379421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:149550714..149552065hg38UCSC Ensembl
Innerchr3:149268501..149269852hg19UCSC Ensembl
Innerchr3:150751191..150752542hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg381352
hg191352
hg181352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8645n54
Supporting Variantsnssv976525
Samples
Known GenesWWTR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592012
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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