A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191141



Internal ID22341890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240198128..240198587hg38UCSC Ensembl
chr2:241137545..241138004hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38460
hg19460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14298120, nssv14298121
SamplesNA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191141
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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