A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5999480



Internal ID21908823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16491878..16492948hg38UCSC Ensembl
chr5:16491987..16493057hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg381071
hg191071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17546180
Samples
Known GenesFAM134B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5999480
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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