A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561388



Internal ID16348797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:27660932..27710804hg38UCSC Ensembl
Innerchr13:28235069..28284941hg19UCSC Ensembl
Innerchr13:27133069..27182941hg18UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg3849873
hg1949873
hg1849873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv807240
Samples
Known GenesPOLR1D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561388
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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