A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054599



Internal ID19143818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18605720..19945687hg38UCSC Ensembl
Innerchr14:19382197..20413846hg19UCSC Ensembl
Innerchr14:18452197..19483686hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381339968
hg191031650
hg181031490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1759n100
Supporting Variantsnssv3713401, nssv3527006, nssv3713400
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H2, OR4K1, OR4K2, OR4K5, 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)nsv1054599
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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