A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048662



Internal ID18791193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100929369..100992723hg38UCSC Ensembl
Innerchr14:101395706..101459060hg19UCSC Ensembl
Innerchr14:100465459..100528813hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3863355
hg1963355
hg1863355
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1975n100
Supporting Variantsnssv3533532, nssv3533533
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, SNORD114-4, 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)nsv1048662
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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