A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048369



Internal ID18790900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:34417750..34505568hg38UCSC Ensembl
Innerchr14:34886956..34974774hg19UCSC Ensembl
Innerchr14:33956707..34044525hg18UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg3887819
hg1987819
hg1887819
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3528600
Samples
Known GenesSPTSSA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048369
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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