A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280697



Internal ID22263059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:138804384..138809751hg38UCSC Ensembl
Outerchr8:139816627..139821994hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38472
hg19472
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240177
Supporting Variants
SamplesNA19238
Known GenesCOL22A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280697
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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