A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524014



Internal ID22393443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:163344641..163344641hg38UCSC Ensembl
chr1:163314431..163314431hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14389288, nssv14438936
SamplesNA19240, HG00733
Known GenesNUF2
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)nsv3524014
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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