A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215180



Internal ID22361597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43739101..43743800hg38UCSC Ensembl
chr21:45158982..45163681hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14300934, nssv14300931, nssv14300932, nssv14300936, nssv14300935, nssv14300930, nssv14300933, nssv14300937, nssv14300929
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPDXK
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215180
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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