A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281020



Internal ID22134853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:123635185..123678151hg38UCSC Ensembl
Outerchr8:124647425..124690391hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg381369
hg191369
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231064
Supporting Variants
SamplesHG00513
Known GenesKLHL38
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281020
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