A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454692



Internal ID232789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:102304620..102304748hg38UCSC Ensembl
chr4:103225777..103225905hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16953421
Samples
Known GenesSLC39A8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454692
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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