A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3177354



Internal ID22334379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42277484..42277800hg38UCSC Ensembl
chr1:42743155..42743471hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv195n152
Supporting Variantsnssv14450010, nssv14422071, nssv14397458
SamplesNA19240, HG00733, HG00514
Known GenesFOXJ3
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)nsv3177354
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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