A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241610



Internal ID21689119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149660790..149660790hg38UCSC Ensembl
chr3:149378577..149378577hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726031
Supporting Variants
Samples
Known GenesWWTR1, WWTR1-AS1
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)nssv17241610
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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