A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831223



Internal ID16108406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:7196532..7393644hg38UCSC Ensembl
Outerchr8:7054054..7251166hg19UCSC Ensembl
Outerchr8:7041464..7238576hg18UCSC Ensembl
Outerchr8:7041464..7238576hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38197113
hg19197113
hg18197113
hg17197113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1446863, nssv1446857, nssv1446860, nssv1446856, nssv1446855, nssv1446861, nssv1446853, nssv1446854, nssv1446849, nssv1446864, nssv1446852, nssv1446865, nssv1446859, nssv1446858
Samples
Known GenesDEFB109P1B, FAM66B, LINC00965, USP17L1P, USP17L4, ZNF705G
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)nsv831223
Frequency
Sample Size95
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer