A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3176080



Internal ID22333701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:17216973..17217032hg38UCSC Ensembl
chr2:17398240..17398299hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14407511
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3176080
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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