A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052342



Internal ID19141561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18605720..19954424hg38UCSC Ensembl
Innerchr14:19382197..20422583hg19UCSC Ensembl
Innerchr14:18452197..19492423hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381348705
hg191040387
hg181040227
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1759n100
Supporting Variantsnssv3527010, nssv3527011
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)nsv1052342
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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