A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453508



Internal ID231629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184848587..185005000hg38UCSC Ensembl
chr1:184817721..184974132hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38156414
hg19156412
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892902
Samples
Known GenesFAM129A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453508
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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