A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277272



Internal ID22141475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:141584404..141659931hg38UCSC Ensembl
Outerchr6:141905541..141981068hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3875528
hg1975528
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191766
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277272
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