A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521912



Internal ID22391328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:36195648..36195648hg38UCSC Ensembl
chr19:36686550..36686550hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg382908
hg192908
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14448242, nssv14420489
SamplesHG00733, HG00514
Known GenesZNF565
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)nsv3521912
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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