A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241496



Internal ID21689005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39996530..39996530hg38UCSC Ensembl
chr22:40392534..40392534hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718200
Supporting Variants
Samples
Known GenesFAM83F
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17241496
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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