A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211858



Internal ID22359282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:104795602..104829241hg38UCSC Ensembl
Outerchr2:105412060..105445699hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg381734
hg191734
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265880, nssv14265881, nssv14265879, nssv14265882, nssv14265878, nssv14265877, nssv14265884, nssv14265883
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesLOC100506421
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211858
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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