A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17380842



Internal ID22438712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54891481..54897080hg38UCSC Ensembl
chr14:55358199..55363798hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg385600
hg195600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5944158
Supporting Variants
Samples
Known GenesGCH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17380842
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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