A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545460



Internal ID15986183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12792723..12827689hg38UCSC Ensembl
Innerchr1:12852872..12887549hg19UCSC Ensembl
Innerchr1:12775459..12810136hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3834967
hg1934678
hg1834678
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv119n54
Supporting Variantsnssv710038
Samples
Known GenesPRAMEF1, PRAMEF11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545460
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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