A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834194



Internal ID16111377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38063495..38240504hg38UCSC Ensembl
Outerchr22:38459502..38636510hg19UCSC Ensembl
Outerchr22:36789448..36966456hg18UCSC Ensembl
Outerchr22:36784002..36961010hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38177010
hg19177009
hg18177009
hg17177009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1456123, nssv1456125, nssv1456126, nssv1456132, nssv1456130, nssv1456128, nssv1456127, nssv1456131, nssv1456129, nssv1456124
Samples
Known GenesBAIAP2L2, MAFF, PICK1, PLA2G6, SLC16A8, TMEM184B
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)nsv834194
Frequency
Sample Size95
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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