A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5579366



Internal ID21527845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178294219..178294432hg38UCSC Ensembl
chr5:177721220..177721433hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17134693
SamplesHG00731
Known GenesCOL23A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5579366
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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