A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17360737



Internal ID22586406
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 StatusS
Merged Variantsnsv5875231
Supporting Variants
Samples
Known GenesCREB3L4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17360737
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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