A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522568



Internal ID22391990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107599844..107599844hg38UCSC Ensembl
chr1:108142466..108142466hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14372655
SamplesNA19240
Known GenesVAV3
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)nsv3522568
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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