A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240437



Internal ID21687946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173919044..173919044hg38UCSC Ensembl
chr5:173346047..173346047hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730246
Supporting Variants
Samples
Known GenesCPEB4
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)nssv17240437
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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