A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3526848



Internal ID18478443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18225635..19637241hg38UCSC Ensembl
Innerchr14:19002112..20105479hg19UCSC Ensembl
Innerchr14:18072112..19175240hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381411607
hg191103368
hg181103129
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1053176
Supporting Variants
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, 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)nssv3526848
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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