A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193026



Internal ID22343525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:19718760..19746954hg38UCSC Ensembl
Outerchr2:19918521..19946715hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3828195
hg1928195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265468
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193026
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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