A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545473



Internal ID15986196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12800601..13048420hg38UCSC Ensembl
Innerchr1:12860749..13051338hg19UCSC Ensembl
Innerchr1:12783336..12973925hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38247820
hg19190590
hg18190590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv125n54
Supporting Variantsnssv710078
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF22, PRAMEF4, PRAMEF6, PRAMEF7, PRAMEF8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545473
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