A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114730



Internal ID21297996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:129444691..129447582hg38UCSC Ensembl
Innerchr6:129765836..129768727hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg382892
hg192892
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1070n145
Supporting Variantsnssv14083897
Samplessample400
Known GenesLAMA2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114730
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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