A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821644



Internal ID16064019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:182761..411478hg38UCSC Ensembl
Innerchr6:182761..411478hg19UCSC Ensembl
Innerchr6:127761..356478hg18UCSC Ensembl
Innerchr6:127761..356478hg17UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38228718
hg19228718
hg18228718
hg17228718
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421403, nssv1421410, nssv1421409, nssv1421406, nssv1421405, nssv1421412, nssv1421404, nssv1421408, nssv1421411
Samples
Known GenesDUSP22, IRF4
MethodROMA
AnalysisMeasured intensities without background subtraction were used to calculate ratios. Data were normalized using an intensity-based lowess curve fitting algorithm similar to that described in Yang et al. Log ratio values obtained from color reversal experiments were averaged and displayed as presented in the figures. Copy number polymorphisms (CNPs) were identified based on probe ratios using a Hidden Markov Model.
PlatformA custom Nimblegen photoprint 85,000 probe ROMA oligo array platform was used.
Comments
ReferenceSebat_et_al_2004
Pubmed ID15273396
Accession Number(s)nsv821644
Frequency
Sample Size31
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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