A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717788



Internal ID21744109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138295633..138295633hg38UCSC Ensembl
chr5:137631322..137631322hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38439
hg19439
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247650
Samples
Known GenesCDC25C
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)nsv5717788
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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