A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821656



Internal ID16064031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7026684..8317105hg38UCSC Ensembl
Innerchr8:6884206..8174627hg19UCSC Ensembl
Innerchr8:6871616..8212037hg18UCSC Ensembl
Innerchr8:6871616..8212037hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381290422
hg191290422
hg181340422
hg171340422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421211, nssv1421206, nssv1421208, nssv1421205, nssv1421204, nssv1421209, nssv1421207, nssv1421210
Samples
Known GenesDEFA11P, DEFA5, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM86B3P, FAM90A10P, FAM90A7P, LINC00965, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G
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)nsv821656
Frequency
Sample Size31
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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