A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3n68



Internal ID11616729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155122502..155343618hg38UCSC Ensembl
chr1:155094978..155313409hg19UCSC Ensembl
chr1:153361602..153580033hg18UCSC Ensembl
chr1:151908051..152126482hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38221117
hg19218432
hg18218432
hg17218432
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv831614, nsv831625
Samples
Known GenesASH1L, CLK2, DPM3, EFNA1, FAM189B, FDPS, GBA, GBAP1, HCN3, KRTCAP2, MIR92B, MTX1, MUC1, PKLR, RUSC1, RUSC1-AS1, SCAMP3, SLC50A1, THBS3, TRIM46
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)dgv3n68
Frequency
Sample Size95
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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