A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198634



Internal ID22348334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:28452127..28469693hg38UCSC Ensembl
Outerchr2:28674994..28692560hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3817567
hg1917567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264856
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198634
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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