A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728978



Internal ID21755299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:109727330..109727330hg38UCSC Ensembl
chrX:108970559..108970559hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243569
Samples
Known GenesACSL4
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)nsv5728978
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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