A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5597791



Internal ID21546409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74291386..74291468hg38UCSC Ensembl
chr18:71958621..71958703hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17101964
SamplesHG03732
Known GenesCYB5A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5597791
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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