A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220768



Internal ID22365372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:57147891..57353008hg38UCSC Ensembl
Outerchr2:57375026..57580143hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg387373
hg197373
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266124, nssv14266123
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220768
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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