A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223323



Internal ID22367129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43035692..43042586hg38UCSC Ensembl
chr21:44455802..44462696hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg386895
hg196895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14300895, nssv14300896, nssv14300897, nssv14300894
SamplesHG00512, NA19238, HG00732, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223323
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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