A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269152



Internal ID22136042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19136863..19167536hg38UCSC Ensembl
Outerchr22:19124376..19155049hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381427
hg191427
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231546
Supporting Variants
SamplesHG00513
Known GenesDGCR14, GSC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269152
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