A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239584



Internal ID21687093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:110043824..110043824hg38UCSC Ensembl
chrX:109287052..109287052hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38656
hg19656
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5731042
Supporting Variants
Samples
Known GenesTMEM164
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17239584
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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