A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190545



Internal ID22341396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113769231..113774121hg38UCSC Ensembl
chr2:114526808..114531698hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg384891
hg194891
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4744n152
Supporting Variantsnssv14292824, nssv14292825
SamplesNA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190545
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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