A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053513



Internal ID18796044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100943073..101000947hg38UCSC Ensembl
Innerchr14:101409410..101467284hg19UCSC Ensembl
Innerchr14:100479163..100537037hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3857875
hg1957875
hg1857875
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1976n100
Supporting Variantsnssv3533548
Samples
Known GenesSNORD113-8, 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)nsv1053513
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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