A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1970n100



Internal ID20153586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100910441..100971722hg38UCSC Ensembl
chr14:101376778..101438059hg19UCSC Ensembl
chr14:100446531..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 Variants
Supporting Variantsnsv1036315, nsv1047798
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)dgv1970n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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