A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14372846



Internal ID22293689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:128035258..128035258hg38UCSC Ensembl
chr10:129833522..129833522hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38367
hg19367
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523105
Supporting Variants
SamplesNA19240
Known GenesPTPRE
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)nssv14372846
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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