A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1421320



Internal ID16410579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:49027842..49095794hg38UCSC Ensembl
Innerchr16:49061753..49129705hg19UCSC Ensembl
Innerchr16:47619254..47687206hg18UCSC Ensembl
Innerchr16:47619254..47687206hg17UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3867953
hg1967953
hg1867953
hg1767953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv821685
Supporting Variants
Samples
Known Genes
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)nssv1421320
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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