A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821651



Internal ID16410712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:120313864..120509817hg38UCSC Ensembl
Innerchr6:120635010..120830963hg19UCSC Ensembl
Innerchr6:120676709..120872662hg18UCSC Ensembl
Innerchr6:120676709..120872662hg17UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38195954
hg19195954
hg18195954
hg17195954
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421194
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)nsv821651
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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