A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17203460



Internal ID21650969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:103437074..103437074hg38UCSC Ensembl
chrX:102692002..102692002hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715411
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)nssv17203460
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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