A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040783



Internal ID19130002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18605720..19799717hg38UCSC Ensembl
Innerchr14:19382197..20267876hg19UCSC Ensembl
Innerchr14:18452197..19337716hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381193998
hg19885680
hg18885520
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1761n100
Supporting Variantsnssv3527003, nssv3527002, nssv3527001
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H2, OR4M1, 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)nsv1040783
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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