A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17205446



Internal ID21652955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119678634..119678634hg38UCSC Ensembl
chrX:118812597..118812597hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726707
Supporting Variants
Samples
Known GenesSEPT6
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)nssv17205446
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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