A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250321



Internal ID21697830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32024138..32024138hg38UCSC Ensembl
chr18:29604101..29604101hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38541
hg19541
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)nssv17250321
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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