A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14379608



Internal ID22292090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75495823..75495823hg38UCSC Ensembl
chr12:75889603..75889603hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521116
Supporting Variants
SamplesNA19240
Known GenesGLIPR1
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)nssv14379608
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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