A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5869805



Internal ID22644740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160230812..160230932hg38UCSC Ensembl
chr1:160200602..160200722hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365419
Samples
Known GenesDCAF8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5869805
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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