A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3184698



Internal ID22338291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:97768839..97769235hg38UCSC Ensembl
chr2:98385302..98385698hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38397
hg19397
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14433759
SamplesHG00514
Known GenesTMEM131
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)nsv3184698
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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