A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508501



Internal ID285189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:120728000..121028734hg38UCSC Ensembl
chr10:122487512..122788247hg19UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg38300735
hg19300736
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17040349
Samples
Known GenesMIR5694, WDR11, WDR11-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508501
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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