A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224139



Internal ID22367665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243978752..243983208hg38UCSC Ensembl
Outerchr1:244142054..244146510hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381828
hg191828
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv652n152
Supporting Variantsnssv14271219, nssv14271220, nssv14271218
SamplesNA19240, HG00733, HG00514
Known GenesLOC339529
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224139
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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