A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218311



Internal ID22363695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42781951..42785300hg38UCSC Ensembl
chr21:44202061..44205410hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383350
hg193350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14303488, nssv14303486, nssv14303493, nssv14303491, nssv14303492, nssv14303494, nssv14303490, nssv14303489, nssv14303487
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)nsv3218311
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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