A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3178527



Internal ID22335043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:72719394..72719699hg38UCSC Ensembl
chr16:72753293..72753598hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3275n152
Supporting Variantsnssv14462107, nssv14431023, nssv14405448
SamplesNA19240, HG00733, HG00514
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)nsv3178527
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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