A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14287040



Internal ID22191058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55266319..55266620hg38UCSC Ensembl
chr19:55777687..55777988hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215932
Supporting Variants
SamplesHG00731
Known GenesHSPBP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14287040
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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