A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243513



Internal ID21691022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:10252885..10252885hg38UCSC Ensembl
chr5:10252997..10252997hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38594
hg19594
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726448
Supporting Variants
Samples
Known GenesCCT5
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)nssv17243513
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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