A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5593996



Internal ID21542589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13981471..13981525hg38UCSC Ensembl
chr18:13981470..13981524hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17100599
SamplesHG02818
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5593996
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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