A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219352



Internal ID22364396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10946189..10961809hg38UCSC Ensembl
Outerchr2:11086315..11101935hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg382159
hg192159
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4478n152
Supporting Variantsnssv14266829, nssv14266827, nssv14266831, nssv14266830, nssv14266833, nssv14266828, nssv14266832
SamplesHG00512, NA19239, 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)nsv3219352
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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