A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14439265



Internal ID22236000
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 StatusS
Merged Variantsnsv3188770
Supporting Variants
SamplesHG00733
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)nssv14439265
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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