A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14288821



Internal ID22262142
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204369
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14288821
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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