A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725665



Internal ID149331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55360189..55362089hg38UCSC Ensembl
chr19:55871557..55873457hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381901
hg191901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5518956
Supporting Variants
Samples
Known GenesFAM71E2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725665
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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