A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831691



Internal ID16108874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:112992419..113167179hg38UCSC Ensembl
Outerchr9:115754699..115929459hg19UCSC Ensembl
Outerchr9:114794520..114969280hg18UCSC Ensembl
Outerchr9:112834254..113009013hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38174761
hg19174761
hg18174761
hg17174760
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1447955, nssv1447956, nssv1447957, nssv1447954, nssv1447952, nssv1447951, nssv1447953
Samples
Known GenesFAM225A, FAM225B, FKBP15, SLC31A2, ZFP37, ZNF883
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)nsv831691
Frequency
Sample Size95
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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