A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483172



Internal ID260614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:54179954..54288177hg38UCSC Ensembl
chr10:55939714..56047937hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38108224
hg19108224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17032877
Samples
Known GenesPCDH15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483172
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