A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14102471



Internal ID21289895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:192521985..192785913hg38UCSC Ensembl
Innerchr2:193386711..193650639hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38263929
hg19263929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3112575
Supporting Variants
Samplessample52
Known GenesPCGEM1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14102471
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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