A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3183906



Internal ID22337865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50350143..50350527hg38UCSC Ensembl
chr17:48427504..48427888hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38385
hg19385
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14431311, nssv14462634
SamplesHG00733, HG00514
Known GenesXYLT2
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)nsv3183906
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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