A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993674



Internal ID19245317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:45091065..45091150hg38UCSC Ensembl
Outerchr14:45560268..45560353hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142166
Supporting Variants
SamplesKWS2
Known GenesPRPF39
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993674
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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