A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5914386



Internal ID22689603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9142487..9142879hg38UCSC Ensembl
chr8:8999997..9000389hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17446202
Samples
Known GenesPPP1R3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5914386
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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