A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14442070



Internal ID22238372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:119281155..119281155hg38UCSC Ensembl
chr10:121040667..121040667hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523028
Supporting Variants
SamplesHG00733
Known GenesGRK5
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)nssv14442070
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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