A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523457



Internal ID22392885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101737016..101737016hg38UCSC Ensembl
chr13:102389366..102389366hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14417844, nssv14444922
SamplesHG00733, HG00514
Known GenesFGF14
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)nsv3523457
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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