A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040404



Internal ID18782935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18225635..19101627hg38UCSC Ensembl
Innerchr14:19002112..19689305hg19UCSC Ensembl
Innerchr14:18072112..18759305hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38875993
hg19687194
hg18687194
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1749n100
Supporting Variantsnssv3526815, nssv3526814, nssv3526813, nssv3713336, nssv3713337
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)nsv1040404
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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