A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888819



Internal ID22663829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80058712..80081286hg38UCSC Ensembl
chr5:79354535..79377109hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3822575
hg1922575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17412013
Samples
Known GenesTHBS4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888819
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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