A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17205456



Internal ID21652965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120609878..120609878hg38UCSC Ensembl
chrX:119743733..119743733hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730467
Supporting Variants
Samples
Known GenesMCTS1
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)nssv17205456
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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