A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14458660



Internal ID22252489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:68691332..68691625hg38UCSC Ensembl
chr15:68983671..68983964hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3177437
Supporting Variants
SamplesHG00733
Known GenesCORO2B
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)nssv14458660
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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