A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17212746



Internal ID21660255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169945799..169945799hg38UCSC Ensembl
chr4:170866950..170866950hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5692041
Supporting Variants
Samples
Known GenesLOC100506085
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)nssv17212746
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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