A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821671



Internal ID16064046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:62400524..62614184hg38UCSC Ensembl
Innerchr12:62794304..63007964hg19UCSC Ensembl
Innerchr12:61080571..61294231hg18UCSC Ensembl
Innerchr12:61080571..61294231hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38213661
hg19213661
hg18213661
hg17213661
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421245
Samples
Known GenesC12orf61, MIRLET7I, MON2, USP15
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)nsv821671
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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