A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17207742



Internal ID21655251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212717704..212717704hg38UCSC Ensembl
chr1:212891046..212891046hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5686449
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)nssv17207742
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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