A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211690



Internal ID22359167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:58486316..58487018hg38UCSC Ensembl
chr19:58997683..58998385hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38703
hg19703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14287504, nssv14287502, nssv14287505, nssv14287501, nssv14287506, nssv14287503
SamplesHG00512, NA19239, HG00731, NA19240, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211690
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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