A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117360



Internal ID21300626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:72022054..72047173hg38UCSC Ensembl
Innerchr2:72249184..72274303hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3825120
hg1925120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14106855, nssv14105812, nssv14104700, nssv14104845, nssv14104799
Samplessample167, sample235, sample385, sample177, sample150
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117360
Frequency
Sample Size467
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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