A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14098573



Internal ID21284350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:30290118..30293393hg38UCSC Ensembl
Innerchr17:28617136..28620411hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg383276
hg193276
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3110698
Supporting Variants
Samplessample360
Known GenesBLMH
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14098573
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