A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17388586



Internal ID22446456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54055452..54055452hg38UCSC Ensembl
chr14:54522170..54522170hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5973296
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17388586
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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