A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5731020



Internal ID21757341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:74814124..74814124hg38UCSC Ensembl
chr15:75106465..75106465hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241973, nssv17237650
Samples
Known GenesLMAN1L
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)nsv5731020
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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