A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547947



Internal ID16335356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154501757..154502501hg38UCSC Ensembl
Innerchr1:154474233..154474977hg19UCSC Ensembl
Innerchr1:152740857..152741601hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38745
hg19745
hg18745
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv584n54
Supporting Variantsnssv724878, nssv724879
Samples
Known GenesSHE, TDRD10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547947
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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