A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6247224



Internal ID22051834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:69850419..69850419hg38UCSC Ensembl
chr10:71610175..71610175hg19UCSC Ensembl
Cytoband10q22.1
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 Variantsnssv17842863
Samples
Known GenesCOL13A1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6247224
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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