A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv710130



Internal ID15657400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12811189..12859212hg38UCSC Ensembl
Innerchr1:12871327..12919067hg19UCSC Ensembl
Innerchr1:12793914..12841654hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3848024
hg1947741
hg1847741
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545495
Supporting Variants
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)nssv710130
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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