A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223180



Internal ID22367030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10946189..10966641hg38UCSC Ensembl
Outerchr2:11086315..11106767hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg383024
hg193024
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4478n152
Supporting Variantsnssv14264543, nssv14264544, nssv14264545
SamplesHG00512, NA19238, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223180
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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