A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259621



Internal ID22231647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:58266410..58295356hg38UCSC Ensembl
Outerchr1:58732082..58761028hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3828947
hg1928947
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210252
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259621
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