A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv828629



Internal ID16122585
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
Samples
Known GenesPLEKHD1, SLC39A9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv828629
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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