A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14101287



Internal ID21279172
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 StatusS
Merged Variantsnsv3116358
Supporting Variants
Samplessample279
Known GenesELAVL1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14101287
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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