A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266597



Internal ID22224321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1557158..1618537hg38UCSC Ensembl
Outerchr20:1537804..1599183hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3861380
hg1961380
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213557
Supporting Variants
SamplesHG00733
Known GenesSIRPB1, SIRPD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266597
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