A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14445112



Internal ID22241007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:67352556..67352556hg38UCSC Ensembl
chr15:67644894..67644894hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521485
Supporting Variants
SamplesHG00733
Known GenesIQCH
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14445112
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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