A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5911228



Internal ID22686441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:36884651..36885707hg38UCSC Ensembl
chr8:36742169..36743225hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg381057
hg191057
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17446706
Samples
Known GenesKCNU1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5911228
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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