A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14375172



Internal ID22321687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47557553..47557553hg38UCSC Ensembl
chr11:47579105..47579105hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38613
hg19613
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522957
Supporting Variants
SamplesNA19240
Known Genes
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)nssv14375172
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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