A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248538



Internal ID21696047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53963707..53963707hg38UCSC Ensembl
chr1:54429380..54429380hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381316
hg191316
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721327
Supporting Variants
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)nssv17248538
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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