A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17353953



Internal ID22579622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28926002..28927943hg38UCSC Ensembl
chr1:29252514..29254455hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381942
hg191942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5878876
Supporting Variants
Samples
Known GenesEPB41
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17353953
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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