A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521683



Internal ID297969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:14033891..14151767hg38UCSC Ensembl
chr17:13937208..14055084hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38117877
hg19117877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711595
Samples
Known GenesCOX10, COX10-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521683
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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