A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3179688



Internal ID22335691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220112113..220112433hg38UCSC Ensembl
chr1:220285455..220285775hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv565n152
Supporting Variantsnssv14408906
SamplesNA19240
Known GenesIARS2, RNU5F-1
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)nsv3179688
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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