A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17204996



Internal ID21652505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:126315690..126315690hg38UCSC Ensembl
chrX:125449673..125449673hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719880
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)nssv17204996
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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