A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728412



Internal ID21754733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77578810..77578810hg38UCSC Ensembl
chr14:78045153..78045153hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381294
hg191294
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237614, nssv17249034
Samples
Known GenesSPTLC2
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)nsv5728412
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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