A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821628



Internal ID16410689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111235980..111490831hg38UCSC Ensembl
Innerchr2:111993557..112248408hg19UCSC Ensembl
Innerchr2:111710028..111964879hg18UCSC Ensembl
Innerchr2:111709788..111964639hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38254852
hg19254852
hg18254852
hg17254852
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421349, nssv1421348
Samples
Known GenesMIR4435-1, MIR4435-1HG, MIR4435-2
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)nsv821628
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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