A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5651396



Internal ID21599701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74269352..74269352hg38UCSC Ensembl
chr18:71936587..71936587hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17101963
SamplesNA24385
Known GenesCYB5A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5651396
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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