A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3519760



Internal ID22389167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156735534..156735534hg38UCSC Ensembl
chr1:156705326..156705326hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14379694, nssv14413276
SamplesNA19240, HG00514
Known GenesRRNAD1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a Alu.Mosaic mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3519760
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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