A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266856



Internal ID22187227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62727820..62762056hg38UCSC Ensembl
Outerchr20:61359172..61393408hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3834237
hg1934237
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229466
Supporting Variants
SamplesHG00731
Known GenesNTSR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266856
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