A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14286281



Internal ID22278572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17298434..17302560hg38UCSC Ensembl
chr19:17409243..17413369hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg384127
hg194127
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226183
Supporting Variants
SamplesNA19239
Known GenesABHD8
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14286281
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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