A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17203833



Internal ID21651342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:10452209..10452209hg38UCSC Ensembl
chrX:10420249..10420249hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727213
Supporting Variants
Samples
Known GenesMID1
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)nssv17203833
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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