A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111363



Internal ID21294629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:18180259..18200610hg38UCSC Ensembl
Innerchr19:18291069..18311420hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3820352
hg1920352
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14100589, nssv14099621, nssv14100417, nssv14099654, nssv14100584, nssv14101069
Samplessample133, sample32, sample175, sample243, sample245, sample117
Known GenesMPV17L2, RAB3A
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111363
Frequency
Sample Size467
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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