A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040793



Internal ID19130012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:106704308..106877229hg38UCSC Ensembl
Innerchr14:107160325..107285437hg19UCSC Ensembl
Innerchr14:106231370..106356482hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38172922
hg19125113
hg18125113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2161n100
Supporting Variantsnssv3534358, nssv3534357, nssv3534356
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040793
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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