A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219589



Internal ID22364569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:111855851..111859150hg38UCSC Ensembl
chr13:112510165..112513464hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14369451, nssv14369447, nssv14369448, nssv14369452, nssv14369453, nssv14369450, nssv14369454, nssv14369446, nssv14369449
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219589
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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