A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17223770



Internal ID21671279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:135383901..135383901hg38UCSC Ensembl
chr7:135068653..135068653hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5700979
Supporting Variants
Samples
Known GenesCNOT4
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)nssv17223770
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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