A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545490



Internal ID15986213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12811189..12839881hg38UCSC Ensembl
Innerchr1:12871327..12899734hg19UCSC Ensembl
Innerchr1:12793914..12822321hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3828693
hg1928408
hg1828408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv710122
Samples
Known GenesPRAMEF11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545490
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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