A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378053



Internal ID22435923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76496401..76496457hg38UCSC Ensembl
chr14:76962744..76962800hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5946398
Supporting Variants
Samples
Known GenesESRRB
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17378053
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1.00


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