A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718168



Internal ID21744489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:8729812..8729812hg38UCSC Ensembl
chrX:8697853..8697853hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252791
Samples
Known GenesKAL1
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)nsv5718168
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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