A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591673



Internal ID16379082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129599435..129606679hg38UCSC Ensembl
Innerchr3:129318278..129325522hg19UCSC Ensembl
Innerchr3:130800968..130808212hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg387245
hg197245
hg187245
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8579n54
Supporting Variantsnssv973179
Samples
Known GenesPLXND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591673
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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