A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522012



Internal ID22391430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98490793..98490793hg38UCSC Ensembl
chr12:98884571..98884571hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14416618, nssv14443641
SamplesHG00733, HG00514
Known GenesLOC643770
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)nsv3522012
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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