A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3187888



Internal ID22339969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:22844998..22845311hg38UCSC Ensembl
chr16:22856319..22856632hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14405796
SamplesNA19240
Known GenesHS3ST2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3187888
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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