A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274815



Internal ID22198354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:16881295..16897938hg38UCSC Ensembl
Outerchr6:16881526..16898169hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3816644
hg1916644
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202603
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274815
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