A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211906



Internal ID22359312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:83132834..83162513hg38UCSC Ensembl
Outerchr1:83598517..83628196hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381599
hg191599
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271514, nssv14271516, nssv14271515, nssv14271517
SamplesHG00512, HG00731, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211906
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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