A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258222



Internal ID22192131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:59558374..59565301hg38UCSC Ensembl
Outerchr14:60025092..60032019hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg384591
hg194591
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240809
Supporting Variants
SamplesHG00731
Known GenesCCDC175
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258222
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