A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198697



Internal ID22348389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18635771..18635916hg38UCSC Ensembl
chr2:18817037..18817182hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4510n152
Supporting Variantsnssv14288774, nssv14288363
SamplesNA19238, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198697
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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