A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594183



Internal ID21542779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:10688818..10689133hg38UCSC Ensembl
chr17:10592135..10592450hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17083505
SamplesHG03125
Known GenesSCO1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594183
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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