A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17224377



Internal ID21671886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:17892867..17892867hg38UCSC Ensembl
chr4:17894490..17894490hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5675797
Supporting Variants
Samples
Known GenesLCORL
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17224377
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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