A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17230304



Internal ID21677813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55971638..55971638hg38UCSC Ensembl
chr4:56837804..56837804hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5676308
Supporting Variants
Samples
Known GenesCEP135
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)nssv17230304
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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