A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448979



Internal ID22244353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53835292..53835292hg38UCSC Ensembl
chr20:52451831..52451831hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381396
hg191396
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3549995
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14448979
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer