A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716693



Internal ID21743014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:41514954..41514954hg38UCSC Ensembl
chrX:41374207..41374207hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17217698, nssv17205262
Samples
Known GenesCASK
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)nsv5716693
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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