A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875231



Internal ID22650188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153970131..153970946hg38UCSC Ensembl
chr1:153942607..153943422hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38816
hg19816
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17360737
Samples
Known GenesCREB3L4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875231
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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