A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545508



Internal ID15986231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12839256..12943584hg38UCSC Ensembl
Innerchr1:12899109..13003414hg19UCSC Ensembl
Innerchr1:12821696..12926001hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38104329
hg19104306
hg18104306
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv129n54
Supporting Variantsnssv710151, nssv710152
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF10, 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)nsv545508
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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