A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563749



Internal ID16351158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19711892..19969990hg38UCSC Ensembl
Innerchr14:20180051..20438149hg19UCSC Ensembl
Innerchr14:19249891..19507989hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38258099
hg19258099
hg18258099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3520n54
Supporting Variantsnssv821548, nssv821546, nssv821547
Samples
Known GenesOR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563749
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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