A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5919318



Internal ID22694540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:1011052..1011137hg38UCSC Ensembl
chr10:1056992..1057077hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17355916
Samples
Known GenesGTPBP4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5919318
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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