A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047798



Internal ID18790329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100910441..100971722hg38UCSC Ensembl
Innerchr14:101376778..101438059hg19UCSC Ensembl
Innerchr14:100446531..100507812hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3861282
hg1961282
hg1861282
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1970n100
Supporting Variantsnssv3533451
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, SNORD114-2, 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)nsv1047798
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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