A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14455995



Internal ID22250314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42182378..42182378hg38UCSC Ensembl
chr8:42039896..42039896hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524318
Supporting Variants
SamplesHG00733
Known GenesPLAT
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)nssv14455995
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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