A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821667



Internal ID16410728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46977295..47632739hg19UCSC Ensembl
Innerchr10:46397301..47102745hg18UCSC Ensembl
Innerchr10:46397301..47102745hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg19655445
hg18705445
hg17705445
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421241
Samples
Known GenesAGAP9, ANTXRLP1, ANXA8, BMS1P2, BMS1P6, FAM25C, FAM25G, FAM35DP, GPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R
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)nsv821667
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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