A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984520



Internal ID21893863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54381960..54383102hg38UCSC Ensembl
chr1:54847633..54848775hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381143
hg191143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17535620
Samples
Known GenesSSBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984520
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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