A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204369



Internal ID22353229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:19787490..19788045hg38UCSC Ensembl
chr2:19987251..19987806hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38556
hg19556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14288821, nssv14288822
SamplesNA19238, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204369
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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