A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14443396



Internal ID22239522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52601768..52601768hg38UCSC Ensembl
chr15:52893965..52893965hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523404
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)nssv14443396
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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