A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190264



Internal ID22341186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70519107..70519427hg38UCSC Ensembl
chr16:70553010..70553330hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3273n152
Supporting Variantsnssv14431022, nssv14404740, nssv14465942
SamplesNA19240, HG00733, HG00514
Known GenesCOG4
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)nsv3190264
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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