A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17235020



Internal ID21682529
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 StatusS
Merged Variantsnsv5716329
Supporting Variants
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)nssv17235020
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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