A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3110348



Internal ID21293614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46789032..46952151hg38UCSC Ensembl
Innerchr2:47016171..47179290hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38163120
hg19163120
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14103254
Samplessample84
Known GenesLINC01118, LINC01119, MCFD2, TTC7A
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3110348
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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