A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276113



Internal ID22270140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:44540292..44553249hg38UCSC Ensembl
Outerchr6:44508029..44520986hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3812958
hg1912958
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194239
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276113
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