A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5590357



Internal ID21538926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:33096293..33096348hg38UCSC Ensembl
chr18:30676257..30676312hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17101115
SamplesNA19238
Known GenesCCDC178
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5590357
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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