A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215800



Internal ID22362007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:17153752..17164903hg38UCSC Ensembl
chr21:18526070..18537221hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3811152
hg1911152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14301544, nssv14301543
SamplesNA19238, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215800
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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