A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17392056



Internal ID22449926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234115282..234127017hg38UCSC Ensembl
chr2:235023926..235035661hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3811736
hg1911736
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5902048
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17392056
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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