A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5602146



Internal ID21550801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31243177..31243241hg38UCSC Ensembl
chr18:28823140..28823204hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17100728
SamplesHG02818
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5602146
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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