A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14102482



Internal ID21290077
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 StatusS
Merged Variantsnsv3116638
Supporting Variants
Samplessample55
Known GenesPMS1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14102482
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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