A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728319



Internal ID21754640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71220164..71220164hg38UCSC Ensembl
chrX:70440014..70440014hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17203379, nssv17230278
Samples
Known GenesBCYRN1, GJB1
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)nsv5728319
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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