A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044604



Internal ID18787135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:52131535..52289964hg38UCSC Ensembl
Innerchr14:52598253..52756682hg19UCSC Ensembl
Innerchr14:51668003..51826432hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38158430
hg19158430
hg18158430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531021
Samples
Known GenesPTGDR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044604
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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