A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3175541



Internal ID22333418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81858342..81858662hg38UCSC Ensembl
chr3:81907493..81907813hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6045n152
Supporting Variantsnssv14434095, nssv14459715, nssv14408952
SamplesNA19240, HG00733, HG00514
Known Genes
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)nsv3175541
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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