A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476676



Internal ID254281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:69853530..69853614hg38UCSC Ensembl
chr10:71613286..71613370hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17035173
Samples
Known GenesCOL13A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476676
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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