A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17230628



Internal ID21678137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50827259..50827259hg38UCSC Ensembl
chr7:50894956..50894956hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5675067
Supporting Variants
Samples
Known Genes
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)nssv17230628
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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