A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4n68



Internal ID20147773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161433240..161696942hg38UCSC Ensembl
chr1:161403030..161666732hg19UCSC Ensembl
chr1:159669654..159933356hg18UCSC Ensembl
chr1:158216103..158398390hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38263703
hg19263703
hg18263703
hg17182288
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv831736, nsv831725
Samples
Known GenesFCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA6, HSPA7, RPL31P11
MethodBAC aCGH
AnalysisExperimental SDs (SDautosome) were calculated for each experiment on the basis of the log2 ratios of the 24,392 reliable clones minus the clones removed because of low signal-to-noise ratio (SNR) or high SD of replicate clone measures (SDclone). Thresholds for determining CNV clones were set at a multiple of the SDautosome value. For each experiment, clones were annotated as uninformative if they were filtered via SNR or SDclone, as a CNV loss if the log2 ratio was less than the negative threshold, as unchanged if the log2 ratio was between the negative and positive thresholds, and as a CNV gain if the log2 ratio was above the positive threshold.
PlatformGPL2616
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)dgv4n68
Frequency
Sample Size95
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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