A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215932



Internal ID22362094
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14287041, nssv14287040, nssv14287042, nssv14287039
SamplesHG00731, HG00732, HG00733, HG00514
Known GenesHSPBP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215932
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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