A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931266



Internal ID22706547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:24148698..24148799hg38UCSC Ensembl
chr18:21728662..21728763hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373108
Samples
Known GenesCABYR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5931266
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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