A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054190



Internal ID18796721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105246882..105701138hg38UCSC Ensembl
Innerchr14:105713219..106167475hg19UCSC Ensembl
Innerchr14:104784264..105238520hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38454257
hg19454257
hg18454257
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3529820
Samples
Known GenesBRF1, BTBD6, C14orf80, CRIP1, CRIP2, ELK2AP, MIR8071-1, MIR8071-2, MTA1, PACS2, TEX22, TMEM121
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054190
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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