A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17200427



Internal ID21647936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:79046204..79046204hg38UCSC Ensembl
chr17:77042286..77042286hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5697510
Supporting Variants
Samples
Known GenesC1QTNF1
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)nssv17200427
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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