A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715606



Internal ID21741927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70520579..70520579hg38UCSC Ensembl
chr14:70987296..70987296hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239784, nssv17234060
Samples
Known Genes
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)nsv5715606
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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