A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5490941



Internal ID268189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12992449..13006122hg38UCSC Ensembl
chr10:13034449..13048122hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3813674
hg1913674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17030222
Samples
Known GenesCCDC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5490941
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