A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257604



Internal ID22118338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:83829249..83830998hg38UCSC Ensembl
Outerchr13:84403384..84405133hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg381750
hg191750
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222356
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257604
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