A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571249



Internal ID16011972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3115424..3251897hg38UCSC Ensembl
Innerchr16:3165425..3301897hg19UCSC Ensembl
Innerchr16:3105426..3241898hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38136474
hg19136473
hg18136473
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148905
SamplesHGDP00697
Known GenesMEFV, OR1F1, OR1F2P, ZNF200, ZNF205, ZNF205-AS1, ZNF213
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571249
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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