A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052048



Internal ID18794579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:93948511..94025471hg38UCSC Ensembl
Innerchr14:94414857..94491817hg19UCSC Ensembl
Innerchr14:93484610..93561570hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3876961
hg1976961
hg1876961
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3532599
Samples
Known GenesASB2, LINC00521
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052048
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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