A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14104684



Internal ID21270244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43758650..43778447hg38UCSC Ensembl
Innerchr2:43985789..44005586hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3819798
hg1919798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3111375
Supporting Variants
Samplessample148
Known GenesDYNC2LI1, PLEKHH2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14104684
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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