A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3531113



Internal ID18829394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:69455835..69509977hg38UCSC Ensembl
Innerchr14:69922552..69976694hg19UCSC Ensembl
Innerchr14:68992305..69046447hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3854143
hg1954143
hg1854143
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1039192
Supporting Variants
Samples
Known GenesPLEKHD1, SLC39A9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3531113
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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