A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520009



Internal ID22389417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:37821213..37821213hg38UCSC Ensembl
chr10:38110141..38110141hg19UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14385919
SamplesNA19240
Known GenesZNF248
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)nsv3520009
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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