A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717658



Internal ID21743979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:39676794..39676794hg38UCSC Ensembl
chr5:39676896..39676896hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241940, nssv17252683
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)nsv5717658
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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