A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274784



Internal ID22207160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:74128560..74167524hg38UCSC Ensembl
Outerchr6:74838276..74877240hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3838965
hg1938965
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194697
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274784
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