A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14417663



Internal ID22153990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:55463665..55463665hg38UCSC Ensembl
chr15:55755863..55755863hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523419
Supporting Variants
SamplesHG00514
Known GenesDYX1C1, DYX1C1-CCPG1
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)nssv14417663
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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