A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545450



Internal ID15986173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12774693..12858819hg38UCSC Ensembl
Innerchr1:12834836..12918674hg19UCSC Ensembl
Innerchr1:12757423..12841261hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3884127
hg1983839
hg1883839
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv116n54
Supporting Variantsnssv710027
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF12, PRAMEF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545450
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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