A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233674



Internal ID22372820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1228004..1281548hg38UCSC Ensembl
Outerchr16:1278004..1331549hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38740
hg19740
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260184, nssv14260183, nssv14260185, nssv14260186, nssv14260182
SamplesNA19239, HG00731, HG00732, NA19240, HG00513
Known GenesTPSAB1, TPSB2, TPSD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233674
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer