A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048719



Internal ID18791250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:25170021..25254769hg38UCSC Ensembl
Innerchr15:25415168..25499916hg19UCSC Ensembl
Innerchr15:22966261..23051009hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3884749
hg1984749
hg1884749
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2479n100
Supporting Variantsnssv3545501, nssv3545502, nssv3545500, nssv3545499, nssv3545498
Samples
Known GenesPWAR4, SNORD115-1, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-2, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-24, SNORD115-25, SNORD115-26, SNORD115-27, SNORD115-28, SNORD115-29, SNORD115-3, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-4, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048719
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer