A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545461



Internal ID15986184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12792723..12861318hg38UCSC Ensembl
Innerchr1:12852872..12921173hg19UCSC Ensembl
Innerchr1:12775459..12843760hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3868596
hg1968302
hg1868302
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv120n54
Supporting Variantsnssv710039
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545461
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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