A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253077



Internal ID22129596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:88188911..88201008hg38UCSC Ensembl
Outerchr9:90803826..90815923hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249470
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253077
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