A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17183130



Internal ID21630639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173490514..173490514hg38UCSC Ensembl
chr1:173459653..173459653hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5685409
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)nssv17183130
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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