A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875058



Internal ID22650012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45390384..45390955hg38UCSC Ensembl
chr1:45856056..45856627hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38572
hg19572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387069
Samples
Known GenesTESK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875058
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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