A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531137



Internal ID307101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35183951..35195955hg38UCSC Ensembl
chr17:33510970..33522974hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3812005
hg1912005
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712794
Samples
Known GenesSLC35G3, UNC45B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531137
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