A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17203519



Internal ID21651028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:135278562..135278562hg38UCSC Ensembl
chrX:134412494..134412494hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727001
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)nssv17203519
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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