A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524248



Internal ID22393679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40808120..40808120hg38UCSC Ensembl
chr15:41100318..41100318hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14417617, nssv14445715
SamplesHG00733, HG00514
Known GenesZFYVE19
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)nsv3524248
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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