A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213884



Internal ID22360691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:171970201..171977243hg38UCSC Ensembl
Outerchr2:172826722..172842182hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg388240
hg198240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265080, nssv14265083, nssv14265081, nssv14265087, nssv14265088, nssv14265084, nssv14265082, nssv14265086, nssv14265085
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesHAT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213884
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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