A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042816



Internal ID18785347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18239271..19101627hg38UCSC Ensembl
Innerchr14:19015748..19689305hg19UCSC Ensembl
Innerchr14:18085748..18759305hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38862357
hg19673558
hg18673558
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1749n100
Supporting Variantsnssv3526897
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, POTEG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042816
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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