A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043279



Internal ID18785810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100929369..100994936hg38UCSC Ensembl
Innerchr14:101395706..101461273hg19UCSC Ensembl
Innerchr14:100465459..100531026hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3865568
hg1965568
hg1865568
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1975n100
Supporting Variantsnssv3533534
Samples
Known GenesSNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-2, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-3, SNORD114-30, SNORD114-31, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043279
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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