A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729267



Internal ID21755588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53963696..53963696hg38UCSC Ensembl
chr1:54429369..54429369hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244574
Samples
Known GenesLRRC42
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)nsv5729267
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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