A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116649



Internal ID21299915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:129446391..129447582hg38UCSC Ensembl
Innerchr6:129767536..129768727hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg381192
hg191192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14084438, nssv14083726, nssv14086471, nssv14086430
Samplessample143, sample68, sample89, sample150
Known GenesLAMA2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116649
Frequency
Sample Size467
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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