A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256844



Internal ID22221155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:109757789..109783336hg38UCSC Ensembl
Outerchr13:110410136..110435683hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3825548
hg1925548
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227761
Supporting Variants
SamplesHG00733
Known GenesIRS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256844
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer