A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821621



Internal ID16063996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161553439..161667052hg38UCSC Ensembl
Innerchr1:161523229..161636842hg19UCSC Ensembl
Innerchr1:159789853..159903466hg18UCSC Ensembl
Innerchr1:158336284..158368514hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38113614
hg19113614
hg18113614
hg1732231
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421213, nssv1421202
Samples
Known GenesFCGR2B, FCGR2C, FCGR3B, HSPA7
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)nsv821621
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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