A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5569683



Internal ID21518044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179577578..179577629hg38UCSC Ensembl
chr5:179004579..179004630hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17125935
SamplesHG03486
Known GenesRUFY1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5569683
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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