A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17395496



Internal ID22453366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41682333..41687710hg38UCSC Ensembl
chr19:42186264..42191639hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385378
hg195376
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5930748
Supporting Variants
Samples
Known GenesCEACAM7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17395496
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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