A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241973



Internal ID21689482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:74814124..74814124hg38UCSC Ensembl
chr15:75106465..75106465hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5731020
Supporting Variants
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)nssv17241973
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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