A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431212



Internal ID209995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153778376..153778509hg38UCSC Ensembl
chr1:153750852..153750985hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890628
Samples
Known GenesSLC27A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431212
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer