A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717257



Internal ID21743578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:156833895..156833895hg38UCSC Ensembl
chr3:156551684..156551684hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241015, nssv17246823
Samples
Known GenesLEKR1
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)nsv5717257
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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