A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219067



Internal ID22364205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:3025528..3047845hg38UCSC Ensembl
Outerchr2:3029300..3051617hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg383537
hg193537
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264954, nssv14264959, nssv14264953, nssv14264955, nssv14264956, nssv14264952, nssv14264957, nssv14264960, nssv14264958
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219067
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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