A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17180186



Internal ID21627695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153699017..153699017hg38UCSC Ensembl
chr1:153671493..153671493hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5690237
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)nssv17180186
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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