A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417634



Internal ID196825
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 StatusM
Merged Variants
Supporting Variantsnssv16889605
Samples
Known GenesBCAS2, DENND2C, TRIM33
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417634
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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