A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3180277



Internal ID22335991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122938646..122938969hg38UCSC Ensembl
chr5:122274341..122274664hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7508n152
Supporting Variantsnssv14465729, nssv14410643, nssv14436507
SamplesNA19240, HG00733, HG00514
Known GenesSNX24
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)nsv3180277
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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