A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048046



Internal ID18790577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:67466159..67491750hg38UCSC Ensembl
Innerchr14:67932876..67958467hg19UCSC Ensembl
Innerchr14:67002629..67028220hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3825592
hg1925592
hg1825592
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1929n100
Supporting Variantsnssv3531103
Samples
Known GenesTMEM229B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048046
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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