A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821625



Internal ID16410686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:82110606..82821002hg38UCSC Ensembl
Innerchr2:82337730..83048126hg19UCSC Ensembl
Innerchr2:82191241..82901637hg18UCSC Ensembl
Innerchr2:82249388..82959784hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38710397
hg19710397
hg18710397
hg17710397
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421279, nssv1421268
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)nsv821625
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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