A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14426110



Internal ID22166329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136045901..136045901hg38UCSC Ensembl
chr6:136367039..136367039hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38283
hg19283
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521339
Supporting Variants
SamplesHG00514
Known GenesPDE7B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14426110
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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