A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042353



Internal ID18784884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100925527..100998647hg38UCSC Ensembl
Innerchr14:101391864..101464984hg19UCSC Ensembl
Innerchr14:100461617..100534737hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3873121
hg1973121
hg1873121
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1975n100
Supporting Variantsnssv3533526, nssv3533529, nssv3533528, nssv3533531, nssv3533530, nssv3533527
Samples
Known GenesSNORD113-2, 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, SNORD114-22, 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)nsv1042353
Frequency
Sample Size29084
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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