A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5526195



Internal ID302335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:14073920..14093080hg38UCSC Ensembl
chr17:13977237..13996397hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3819161
hg1919161
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711599
Samples
Known GenesCOX10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5526195
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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