A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425406



Internal ID204371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173554688..173555832hg38UCSC Ensembl
chr1:173523827..173524971hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg381145
hg191145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891686
Samples
Known GenesSLC9C2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425406
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