A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546099



Internal ID16333508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40881556..40921331hg38UCSC Ensembl
Innerchr1:41347228..41387003hg19UCSC Ensembl
Innerchr1:41119815..41159590hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3839776
hg1939776
hg1839776
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv249n54
Supporting Variantsnssv712648
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546099
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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