A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5580469



Internal ID21528959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178239493..178239712hg38UCSC Ensembl
chr5:177666494..177666713hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17128079
SamplesHG00512
Known GenesCOL23A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5580469
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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