A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3188770



Internal ID22340422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:91209461..91209798hg38UCSC Ensembl
chr10:92969218..92969555hg19UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1011n152
Supporting Variantsnssv14375933, nssv14413402, nssv14439265
SamplesNA19240, HG00733, HG00514
Known GenesPCGF5
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)nsv3188770
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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