A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716329



Internal ID21742650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:129842580..129842580hg38UCSC Ensembl
chrX:128976556..128976556hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235020
Samples
Known GenesZDHHC9
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)nsv5716329
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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