A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256528



Internal ID22200524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13094375..13242101hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38147727
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200148
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256528
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