A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242885



Internal ID21690394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51260930..51260930hg38UCSC Ensembl
chr1:51726602..51726602hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38442
hg19442
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730338
Supporting Variants
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)nssv17242885
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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