A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3171017



Internal ID22331052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:75306793..75306843hg38UCSC Ensembl
chr6:76016509..76016559hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14412389
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)nsv3171017
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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