A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239309



Internal ID22374387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:132421611..132421687hg38UCSC Ensembl
chr9:135296998..135297074hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14437418, nssv14411933, nssv14384896
SamplesNA19240, HG00733, HG00514
Known GenesC9orf171
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239309
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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