A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051417



Internal ID18793948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100931279..101001185hg38UCSC Ensembl
Innerchr14:101397616..101467522hg19UCSC Ensembl
Innerchr14:100467369..100537275hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3869907
hg1969907
hg1869907
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1974n100
Supporting Variantsnssv3533537
Samples
Known GenesSNORD113-4, 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)nsv1051417
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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