A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190686



Internal ID22341515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238689793..238693321hg38UCSC Ensembl
Outerchr2:239598434..239601962hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383529
hg193529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263911
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190686
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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