A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114112



Internal ID21297378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76048581..76053543hg38UCSC Ensembl
Innerchr7:75677899..75682861hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg384963
hg194963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14084865, nssv14086667
Samplessample325, sample51
Known GenesMDH2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114112
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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