A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17205670



Internal ID21653179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18160222..18160222hg38UCSC Ensembl
chr1:18486716..18486716hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5682968
Supporting Variants
Samples
Known GenesIGSF21
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)nssv17205670
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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