A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222617



Internal ID22366638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:24900933..24906005hg38UCSC Ensembl
Outerchr7:24940552..24945624hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg384344
hg194344
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280069, nssv14280071, nssv14280070
SamplesHG00731, HG00732, HG00733
Known GenesOSBPL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222617
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