A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6247235



Internal ID22051845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:71489440..71489440hg38UCSC Ensembl
chr10:73249197..73249197hg19UCSC 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 Variantsnssv17842875
Samples
Known GenesCDH23
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6247235
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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