A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563613



Internal ID16351022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18600259..19849588hg38UCSC Ensembl
Innerchr14:19376736..20317747hg19UCSC Ensembl
Innerchr14:18446736..19387587hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381249330
hg19941012
hg18940852
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3489n54
Supporting Variantsnssv821328
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, OR4M1, OR4N2, OR4Q3, POTEG, POTEM
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563613
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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