A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17203447



Internal ID21650956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:101479323..101479323hg38UCSC Ensembl
chrX:100734311..100734311hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722605
Supporting Variants
Samples
Known GenesARMCX4
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)nssv17203447
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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