A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048439



Internal ID18790970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:25050690..25081671hg38UCSC Ensembl
Innerchr15:25295837..25326818hg19UCSC Ensembl
Innerchr15:22846930..22877911hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3830982
hg1930982
hg1830982
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2474n100
Supporting Variantsnssv3545405, nssv3545404
Samples
Known GenesSNORD116-1, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-2, SNORD116-3, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048439
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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