A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17178306



Internal ID21625815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:144448080..144448080hg38UCSC Ensembl
chr5:143827643..143827643hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5692853
Supporting Variants
Samples
Known GenesKCTD16
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)nssv17178306
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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