A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112730



Internal ID21295996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:100464413..100471755hg38UCSC Ensembl
Innerchr2:101080875..101088217hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg387343
hg197343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14106032
Samplessample289
Known GenesNMS
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112730
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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