A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5489305



Internal ID266594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50330928..50524731hg38UCSC Ensembl
chr10:52090688..52284491hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38193804
hg19193804
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17034692
Samples
Known GenesSGMS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5489305
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