A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3180929



Internal ID22336314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:113538562..113538859hg38UCSC Ensembl
chr7:113178617..113178914hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14379163
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)nsv3180929
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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