A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14452855



Internal ID22247690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:118304985..118304985hg38UCSC Ensembl
chr6:118626148..118626148hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523255
Supporting Variants
SamplesHG00733
Known GenesSLC35F1
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)nssv14452855
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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