A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724540



Internal ID21750861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56509165..56509165hg38UCSC Ensembl
chr4:57375331..57375331hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38786
hg19786
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243479, nssv17242023
Samples
Known GenesARL9
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)nsv5724540
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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