A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14088747



Internal ID21280387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:68228058..68235665hg38UCSC Ensembl
Innerchr10:69987815..69995422hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg387608
hg197608
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3118236
Supporting Variants
Samplessample296
Known GenesATOH7
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14088747
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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