A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5588276



Internal ID21536837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:8634166..8634280hg38UCSC Ensembl
chr18:8634164..8634278hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17103784
SamplesHG00731
Known GenesRAB12
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5588276
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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