A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169497



Internal ID21313980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:75107061..75199326hg38UCSC Ensembl
Outerchr14:75105716..75201443hg38UCSC Ensembl
Innerchr14:75573764..75666029hg19UCSC Ensembl
Outerchr14:75572419..75668146hg19UCSC Ensembl
Innerchr14:74643517..74735782hg18UCSC Ensembl
Outerchr14:74642172..74737899hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3895728
hg1995728
hg1895728
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14242758
SamplesPML_1
Known GenesNEK9, TMED10
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169497
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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