A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730338



Internal ID21756659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51260930..51260930hg38UCSC Ensembl
chr1:51726602..51726602hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38459
hg19459
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242885, nssv17238436
Samples
Known GenesRNF11
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)nsv5730338
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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