A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4733259



Internal ID20509187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51508181..51508266hg38UCSC Ensembl
chr1:51973853..51973938hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16293258
Samples
Known GenesEPS15
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4733259
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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