A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14409781



Internal ID22323230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29299961..29300031hg38UCSC Ensembl
chr22:29695951..29696021hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192921
Supporting Variants
SamplesNA19240
Known GenesEWSR1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14409781
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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