A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3519708



Internal ID22387937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180888413..180888413hg38UCSC Ensembl
chr1:180857549..180857549hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14412908, nssv14382270, nssv14440728
SamplesNA19240, HG00733, HG00514
Known GenesXPR1
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)nsv3519708
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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