A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219221



Internal ID22364310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:182290164..182313863hg38UCSC Ensembl
Outerchr1:182259299..182282998hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381437
hg191437
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271841, nssv14271842
SamplesHG00512, HG00513
Known GenesLOC400799
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219221
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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