A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5885485



Internal ID22660469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86075621..86078027hg38UCSC Ensembl
chr1:86541304..86543710hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg382407
hg192407
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17370826
Samples
Known GenesCOL24A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5885485
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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