A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253211



Internal ID22199454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:131775352..131796747hg38UCSC Ensembl
Outerchr9:134650739..134672134hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38718
hg19718
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231199
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253211
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