A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14455814



Internal ID22250168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39211648..39211968hg38UCSC Ensembl
chr22:39607653..39607973hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3181724
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14455814
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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