A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547843



Internal ID15988566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149827053..149846899hg38UCSC Ensembl
Innerchr1:149798606..149818466hg19UCSC Ensembl
Innerchr1:148065230..148085090hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3819847
hg1919861
hg1819861
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv723495
Samples
Known GenesHIST2H2AA3, HIST2H2AA4, HIST2H3A, HIST2H3C, HIST2H4A, HIST2H4B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547843
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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