A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727681



Internal ID21754002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:132818712..132818712hg38UCSC Ensembl
chrX:131952740..131952740hg19UCSC Ensembl
CytobandXq26.2
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 Variantsnssv17203501, nssv17219813
Samples
Known GenesHS6ST2
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)nsv5727681
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer