A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821670



Internal ID16410731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:16405220..16421623hg38UCSC Ensembl
Innerchr12:16558154..16574557hg19UCSC Ensembl
Innerchr12:16449421..16465824hg18UCSC Ensembl
Innerchr12:16449421..16465824hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3816404
hg1916404
hg1816404
hg1716404
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421244
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)nsv821670
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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