A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3184501



Internal ID22338189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:124877372..124877997hg38UCSC Ensembl
chr10:126565941..126566566hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38626
hg19626
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14412813
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a Alu.Moasic mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3184501
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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