A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522032



Internal ID22391450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4661708..4661708hg38UCSC Ensembl
chr12:4770874..4770874hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14386670, nssv14441725
SamplesNA19240, HG00733
Known GenesNDUFA9
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)nsv3522032
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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