A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116638



Internal ID21299904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:189850512..189860862hg38UCSC Ensembl
Innerchr2:190715238..190725588hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3810351
hg1910351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14102482
Samplessample55
Known GenesPMS1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116638
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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