A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1421249



Internal ID16410508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:89059795..89128047hg38UCSC Ensembl
Innerchr13:89712049..89780301hg19UCSC Ensembl
Innerchr13:88510050..88578302hg18UCSC Ensembl
Innerchr13:88510050..88578302hg17UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg3868253
hg1968253
hg1868253
hg1768253
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv821674
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)nssv1421249
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer