A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722123



Internal ID21748444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:46739957..46739957hg38UCSC Ensembl
chrX:46599392..46599392hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38824
hg19824
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249238, nssv17238720
Samples
Known GenesSLC9A7
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5722123
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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