A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149502



Internal ID15880048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:69461590..69504881hg38UCSC Ensembl
Innerchr14:69928307..69971598hg19UCSC Ensembl
Innerchr14:68998060..69041351hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3843292
hg1943292
hg1843292
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv564967
Supporting Variants
SamplesNINDS_146
Known GenesPLEKHD1, SLC39A9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149502
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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