A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17179520



Internal ID21627029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117936906..117936906hg38UCSC Ensembl
chr1:118479529..118479529hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5678396
Supporting Variants
Samples
Known GenesWDR3
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)nssv17179520
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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