A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821622



Internal ID16410683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:240199559..240231580hg38UCSC Ensembl
Innerchr1:240362859..240394880hg19UCSC Ensembl
Innerchr1:238429482..238461503hg18UCSC Ensembl
Innerchr1:236688900..236720921hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3832022
hg1932022
hg1832022
hg1732022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421224
Samples
Known GenesFMN2
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)nsv821622
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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