A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194381



Internal ID22344698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:59422183..59452308hg38UCSC Ensembl
Outerchr2:59649318..59679443hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3830126
hg1930126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264085
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194381
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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