A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117211



Internal ID21300477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:103634051..103639628hg38UCSC Ensembl
Innerchr2:104250509..104256086hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg385578
hg195578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14103189, nssv14104898
Samplessample189, sample71
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117211
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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