A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275500



Internal ID22138495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:73852501..73932271hg38UCSC Ensembl
Outerchr6:74562210..74641987hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3879771
hg1979778
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208824
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275500
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