A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5593694



Internal ID21542285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37819723..37825782hg38UCSC Ensembl
chr18:35399687..35405746hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg386060
hg196060
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17100749
SamplesHG03125
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5593694
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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