A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546446



Internal ID15987169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:67085526..67182777hg38UCSC Ensembl
Innerchr1:67551209..67648460hg19UCSC Ensembl
Innerchr1:67323797..67421048hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3897252
hg1997252
hg1897252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173009
SamplesHGDP01368
Known GenesC1orf141, IL23R
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546446
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