A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17205610



Internal ID21653119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:112098844..112098844hg38UCSC Ensembl
chrX:111342072..111342072hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723293
Supporting Variants
Samples
Known GenesZCCHC16
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)nssv17205610
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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