A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888848



Internal ID22663858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141922981..141925096hg38UCSC Ensembl
chr5:141302546..141304661hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382116
hg192116
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17429337
Samples
Known GenesKIAA0141
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888848
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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