A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523410



Internal ID22392837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92745376..92745376hg38UCSC Ensembl
chr12:93139152..93139152hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14377308
SamplesNA19240
Known GenesPLEKHG7
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3523410
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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