A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276805



Internal ID22260541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:113099633..113148560hg38UCSC Ensembl
Outerchr5:112435330..112484257hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg387499
hg197499
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219567
Supporting Variants
SamplesNA19238
Known GenesMCC
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276805
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