A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170521



Internal ID22330796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:89132296..89137219hg38UCSC Ensembl
chr6:89842015..89846938hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg384924
hg194924
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14410699
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3170521
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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