A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3176339



Internal ID22333821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193436807..193437119hg38UCSC Ensembl
chr3:193154596..193154908hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6316n152
Supporting Variantsnssv14409031
SamplesNA19240
Known GenesATP13A4
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)nsv3176339
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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