A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3189035



Internal ID22340567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35208552..35208688hg38UCSC Ensembl
chr19:35699455..35699591hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14406348
SamplesNA19240
Known Genes
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)nsv3189035
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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