A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116760



Internal ID21300026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:130929160..130936824hg38UCSC Ensembl
Innerchr6:131250300..131257964hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg387665
hg197665
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14089137
Samplessample264
Known GenesEPB41L2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116760
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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