A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3173530



Internal ID22332367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:8026898..8027204hg38UCSC Ensembl
chr5:8027011..8027317hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7185n152
Supporting Variantsnssv14411396
SamplesNA19240
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)nsv3173530
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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