A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14375772



Internal ID22327340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69461796..69461796hg38UCSC Ensembl
chr12:69855576..69855576hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523361
Supporting Variants
SamplesNA19240
Known Genes
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)nssv14375772
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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