A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523732



Internal ID22393160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4734671..4734671hg38UCSC Ensembl
chr12:4843837..4843837hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14441727
SamplesHG00733
Known GenesGALNT8
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)nsv3523732
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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