A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242729



Internal ID21690238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45225417..45225417hg38UCSC Ensembl
chr13:45799552..45799552hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716668
Supporting Variants
Samples
Known GenesGTF2F2
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)nssv17242729
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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