A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545446



Internal ID15986169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12764075..12852235hg38UCSC Ensembl
Innerchr1:12824223..12912088hg19UCSC Ensembl
Innerchr1:12746810..12834675hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3888161
hg1987866
hg1887866
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv114n54
Supporting Variantsnssv710023
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545446
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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