A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520293



Internal ID22389701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207112164..207112164hg38UCSC Ensembl
chr2:207976888..207976888hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14421313
SamplesHG00514
Known GenesKLF7
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)nsv3520293
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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