A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730233



Internal ID21756554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:46592227..46592227hg38UCSC Ensembl
chrX:46451662..46451662hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205314
Samples
Known GenesCHST7
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)nsv5730233
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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