A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260855



Internal ID22145443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88540070..88554690hg38UCSC Ensembl
Outerchr16:88606478..88621098hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg381795
hg191795
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235762
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260855
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