A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14291939



Internal ID22268591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53687648..53729433hg38UCSC Ensembl
chr19:54190902..54232687hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3841786
hg1941786
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216911
Supporting Variants
SamplesNA19238
Known GenesMIR1283-1, MIR516B2, MIR517A, MIR517B, MIR518B, MIR518C, MIR518F, MIR519B, MIR519D, MIR520A, MIR520B, MIR520C, MIR520D, MIR520G, MIR521-2, MIR523, MIR524, MIR525, MIR526A1, MIR526A2, MIR526B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14291939
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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