A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215721



Internal ID22361956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22583401..22592950hg38UCSC Ensembl
chr8:22440914..22450463hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg389550
hg199550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14340379, nssv14340374, nssv14340372, nssv14340376, nssv14340373, nssv14340378, nssv14340375, nssv14340371, nssv14340377
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPDLIM2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215721
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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