A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216911



Internal ID22362751
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14291939
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)nsv3216911
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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