A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14443397



Internal ID22239524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52674205..52674205hg38UCSC Ensembl
chr15:52966402..52966402hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520945
Supporting Variants
SamplesHG00733
Known GenesFAM214A
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)nssv14443397
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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