A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545561



Internal ID15986284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13287032..13348434hg38UCSC Ensembl
Innerchr1:13607252..13674919hg19UCSC Ensembl
Innerchr1:13479839..13547506hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3861403
hg1967668
hg1867668
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv141n54
Supporting Variantsnssv710247
Samples
Known GenesPRAMEF13, PRAMEF15, PRAMEF7, PRAMEF8, PRAMEF9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545561
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