A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14460582



Internal ID22213140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:67242128..67242462hg38UCSC Ensembl
chr15:67534466..67534800hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3189421
Supporting Variants
SamplesHG00733
Known GenesAAGAB
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)nssv14460582
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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