A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723528



Internal ID147194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41749874..41787937hg38UCSC Ensembl
chr19:42253782..42291845hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3838064
hg1938064
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531966
Supporting Variants
Samples
Known GenesCEACAM6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723528
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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