A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821618



Internal ID16410679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:105517432..105692772hg38UCSC Ensembl
Innerchr1:106060054..106235394hg19UCSC Ensembl
Innerchr1:105861577..106036917hg18UCSC Ensembl
Innerchr1:105772075..105947415hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38175341
hg19175341
hg18175341
hg17175341
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421407
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)nsv821618
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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