A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048683



Internal ID18791214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100916831..100982495hg38UCSC Ensembl
Innerchr14:101383168..101448832hg19UCSC Ensembl
Innerchr14:100452921..100518585hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3865665
hg1965665
hg1865665
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1972n100
Supporting Variantsnssv3533497
Samples
Known GenesSNORD113-1, SNORD113-2, SNORD113-3, 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, SNORD114-3, 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)nsv1048683
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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