A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241654



Internal ID21689163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32024138..32024138hg38UCSC Ensembl
chr18:29604101..29604101hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728010
Supporting Variants
Samples
Known GenesRNF125
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)nssv17241654
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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