A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821633



Internal ID16064008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:14287..65039hg38UCSC Ensembl
Innerchr4:14287..64931hg19UCSC Ensembl
Innerchr4:4287..54931hg18UCSC Ensembl
Innerchr4:4287..54931hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3850753
hg1950645
hg1850645
hg1750645
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421356, nssv1421357
Samples
Known GenesZNF595, ZNF718
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)nsv821633
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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