A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889605



Internal ID167165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114507208..114642670hg38UCSC Ensembl
chr1:115049829..115185291hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38135463
hg19135463
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5417634
Supporting Variants
Samples
Known GenesBCAS2, DENND2C, TRIM33
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889605
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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