A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483018



Internal ID6081324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:220206919..220390543hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv650908
Samples
Known GenesACCN4, DES, DNPEP, GMPPA, SPEG
Method
AnalysisFollowing background subtraction, initial fluorescent ratios were transformed to log2 values, and data points greater than 2 standard deviations away from the population mean ratio were identified. These \outliers\ were removed, and the procedure was repeated until the data points were all within the 2 standard deviations-established threshold. Regression was performed against a ratio value of 1. The ratios for each clone were subsequently plotted into chromosome-specific profiles.
PlatformSpectral Genomics 2600 BAC array
CommentsRP11-206L19 (NCBI34)
ReferenceIafrate et al 2004
Pubmed ID15286789
Accession Number(s)nsv483018
Frequency
Sample Size0
Observed Gain8
Observed Loss0
Observed Complexn/a
Frequencyn/a


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