A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18053554



Internal ID20620594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167362279..167362784hg38UCSC Ensembl
chr1:167331516..167332021hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38506
hg19506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6319385
Supporting Variants
Samples
Known GenesPOU2F1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18053554
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00152


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