A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254834



Internal ID22117376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:104693551..104716147hg38UCSC Ensembl
Outerchr1:105236173..105258769hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3822597
hg1922597
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201907
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254834
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