A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3186772



Internal ID22339372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:34529995..34530329hg38UCSC Ensembl
chr4:34531617..34531951hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6547n152
Supporting Variantsnssv14409545, nssv14465353
SamplesNA19240, HG00733
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)nsv3186772
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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