A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044258



Internal ID19133477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19019295..19945687hg38UCSC Ensembl
Innerchr14:19606995..20413846hg19UCSC Ensembl
Innerchr14:18676995..19483686hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38926393
hg19806852
hg18806692
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1766n100
Supporting Variantsnssv3529659, nssv3529660
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044258
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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