A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522577



Internal ID22391999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:208518135..208518135hg38UCSC Ensembl
chr1:208691480..208691480hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413965, nssv14384173
SamplesNA19240, HG00514
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)nsv3522577
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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