A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5581429



Internal ID21529928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178418668..178418717hg38UCSC Ensembl
chr5:177845669..177845718hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17129867
SamplesNA19238
Known GenesCOL23A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5581429
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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