A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545471



Internal ID15986194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12800601..12858819hg38UCSC Ensembl
Innerchr1:12860749..12918674hg19UCSC Ensembl
Innerchr1:12783336..12841261hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3858219
hg1957926
hg1857926
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv120n54
Supporting Variantsnssv710073, nssv710074, nssv710076, nssv710072, nssv710075
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF11, PRAMEF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545471
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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