A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704574



Internal ID21730895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:71465894..71465894hg38UCSC Ensembl
chr10:73225651..73225651hg19UCSC Ensembl
Cytoband10q22.1
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 Variantsnssv17215399, nssv17188177
Samples
Known GenesCDH23
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)nsv5704574
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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