A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3538091



Internal ID22407283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44899070..44899385hg38UCSC Ensembl
chr19:45402327..45402642hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14287594, nssv14287587, nssv14287592, nssv14287589, nssv14287591, nssv14287588, nssv14287593, nssv14287590
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known GenesTOMM40
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3538091
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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