A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17198444



Internal ID21645953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62785876..62785876hg38UCSC Ensembl
chr17:60863237..60863237hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5710382
Supporting Variants
Samples
Known GenesMARCH10, MIR548W
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)nssv17198444
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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