A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041797



Internal ID18784328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100925527..100994936hg38UCSC Ensembl
Innerchr14:101391864..101461273hg19UCSC Ensembl
Innerchr14:100461617..100531026hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3869410
hg1969410
hg1869410
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1973n100
Supporting Variantsnssv3533525, nssv3533524, nssv3533523
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)nsv1041797
Frequency
Sample Size29084
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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