A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520676



Internal ID22390084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:126102519..126102519hg38UCSC Ensembl
chr6:126423665..126423665hg19UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14400081, nssv14426077
SamplesNA19240, HG00514
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)nsv3520676
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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