A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521677



Internal ID22391093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37607838..37607838hg38UCSC Ensembl
chr13:38181975..38181975hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14373443, nssv14445287
SamplesNA19240, HG00733
Known Genes
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)nsv3521677
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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