A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267178



Internal ID22203788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:43636948..43651123hg38UCSC Ensembl
Outerchr20:42265588..42279763hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3814176
hg1914176
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215592
Supporting Variants
SamplesHG00732
Known GenesIFT52
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267178
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