A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5598800



Internal ID21547429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69334266..69338968hg38UCSC Ensembl
chr17:67330407..67335109hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg384703
hg194703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17080380
SamplesHG02492
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5598800
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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