A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116358



Internal ID21299624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:7973722..7989942hg38UCSC Ensembl
Innerchr19:8038606..8054826hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3816221
hg1916221
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14101287
Samplessample279
Known GenesELAVL1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116358
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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