A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728010



Internal ID21754331
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 StatusM
Merged Variants
Supporting Variantsnssv17250321, nssv17241654
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)nsv5728010
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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