A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040570



Internal ID19129789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19256386..19939471hg38UCSC Ensembl
Innerchr14:19844095..20407630hg19UCSC Ensembl
Innerchr14:18914095..19477470hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38683086
hg19563536
hg18563376
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1768n100
Supporting Variantsnssv3527332
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)nsv1040570
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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