A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821676



Internal ID16410737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19729457..19930889hg38UCSC Ensembl
Innerchr14:20197616..20399048hg19UCSC Ensembl
Innerchr14:19267456..19468888hg18UCSC Ensembl
Innerchr14:19267456..19468888hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38201433
hg19201433
hg18201433
hg17201433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421254, nssv1421263, nssv1421265, nssv1421271, nssv1421267, nssv1421253, nssv1421270, nssv1421269, nssv1421261, nssv1421264, nssv1421256, nssv1421258, nssv1421259, nssv1421262, nssv1421266, nssv1421252, nssv1421260, nssv1421255
Samples
Known GenesOR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
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)nsv821676
Frequency
Sample Size31
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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