A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715714



Internal ID21742035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55951382..55951382hg38UCSC Ensembl
chr5:55247210..55247210hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38909
hg19909
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246349, nssv17234759
Samples
Known GenesIL6ST
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)nsv5715714
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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