A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821630



Internal ID16410691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:155440295..155610725hg38UCSC Ensembl
Innerchr2:156296807..156467237hg19UCSC Ensembl
Innerchr2:156005053..156175483hg18UCSC Ensembl
Innerchr2:156122315..156292745hg17UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38170431
hg19170431
hg18170431
hg17170431
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421353, nssv1421351
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)nsv821630
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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