A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716692



Internal ID21743013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:152938899..152938899hg38UCSC Ensembl
chrX:152107443..152107443hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17221901
Samples
Known GenesZNF185
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5716692
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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