A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14465418



Internal ID22217736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32771849..32771911hg38UCSC Ensembl
chr21:34144160..34144222hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3291773
Supporting Variants
SamplesHG00733
Known GenesPAXBP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14465418
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