A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821652



Internal ID16064027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:13399317..14515263hg38UCSC Ensembl
Innerchr7:13438942..14554888hg19UCSC Ensembl
Innerchr7:13405467..14521413hg18UCSC Ensembl
Innerchr7:13212182..14328128hg17UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg381115947
hg191115947
hg181115947
hg171115947
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421196, nssv1421195
Samples
Known GenesDGKB, ETV1
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)nsv821652
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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