A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3182703



Internal ID22337231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:154378945..154379265hg38UCSC Ensembl
chr3:154096734..154097054hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6209n152
Supporting Variantsnssv14434967, nssv14409942, nssv14460147
SamplesNA19240, HG00733, HG00514
Known GenesGPR149
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)nsv3182703
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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