A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044317



Internal ID19133536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18559262..19350746hg38UCSC Ensembl
Innerchr14:19335739..19938429hg19UCSC Ensembl
Innerchr14:18405739..19008429hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38791485
hg19602691
hg18602691
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1755n100
Supporting Variantsnssv3526951
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)nsv1044317
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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