A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525414



Internal ID301574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:14053741..14130426hg38UCSC Ensembl
chr17:13957058..14033743hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3876686
hg1976686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711597
Samples
Known GenesCOX10, COX10-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525414
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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