A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3176692



Internal ID22334015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68552651..68552981hg38UCSC Ensembl
chr17:66548792..66549122hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3614n152
Supporting Variantsnssv14407104
SamplesNA19240
Known GenesFAM20A
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)nsv3176692
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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