A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17386991



Internal ID22444861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:71999674..71999747hg38UCSC Ensembl
chr14:72466391..72466464hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5934439
Supporting Variants
Samples
Known GenesRGS6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17386991
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.051


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