A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048393



Internal ID18790924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18225635..19860158hg38UCSC Ensembl
Innerchr14:19002112..20328317hg19UCSC Ensembl
Innerchr14:18072112..19398157hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381634524
hg191326206
hg181326046
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526859, nssv3526860
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, OR4M1, OR4N2, OR4Q3, POTEG, POTEM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048393
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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