A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5918414



Internal ID22693635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9140375..9140601hg38UCSC Ensembl
chr8:8997885..8998111hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17448843
Samples
Known GenesPPP1R3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5918414
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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