A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831850



Internal ID16109033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46714298..46928426hg38UCSC Ensembl
Outerchr10:46624005..46835319hg19UCSC Ensembl
Outerchr10:46044011..46255325hg18UCSC Ensembl
Outerchr10:46044011..46255325hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38214129
hg19211315
hg18211315
hg17211315
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1448397, nssv1448396, nssv1448392, nssv1448399, nssv1448394, nssv1448393, nssv1448398, nssv1448391
Samples
Known GenesBMS1P1, BMS1P5, FRMPD2P1, GLUD1P7, PTPN20A, PTPN20B
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)nsv831850
Frequency
Sample Size95
Observed Gain7
Observed Loss1
Observed Complex0
Frequencyn/a


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