A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193986



Internal ID22344363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231715712..231716066hg38UCSC Ensembl
chr2:232580422..232580776hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14298992, nssv14298991
SamplesNA19238, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193986
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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