A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048432



Internal ID18790963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100916831..100992723hg38UCSC Ensembl
Innerchr14:101383168..101459060hg19UCSC Ensembl
Innerchr14:100452921..100528813hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3875893
hg1975893
hg1875893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1972n100
Supporting Variantsnssv3533502, nssv3533500, nssv3533501, nssv3533499, nssv3533503
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, SNORD114-14, 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)nsv1048432
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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