A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545504



Internal ID15986227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12830906..12943584hg38UCSC Ensembl
Innerchr1:12890761..13003414hg19UCSC Ensembl
Innerchr1:12813348..12926001hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38112679
hg19112654
hg18112654
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv129n54
Supporting Variantsnssv710146
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, PRAMEF6, PRAMEF7, PRAMEF8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545504
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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