A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550477



Internal ID16337886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:38576045..38861502hg38UCSC Ensembl
Innerchr10:38869176..39154633hg19UCSC Ensembl
Innerchr10:38909182..39194639hg18UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg38285458
hg19285458
hg18285458
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1040n54
Supporting Variantsnssv746948, nssv746949, nssv746955, nssv746957, nssv746951, nssv746953, nssv746954, nssv746952, nssv746950, nssv746956
Samples
Known GenesACTR3BP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550477
Frequency
Sample Size17421
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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