A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523255



Internal ID22392681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:118304985..118304985hg38UCSC Ensembl
chr6:118626148..118626148hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14426525, nssv14452855, nssv14400042
SamplesNA19240, HG00733, HG00514
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)nsv3523255
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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