A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829660



Internal ID16106843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:40073032..40266408hg38UCSC Ensembl
Outerchr1:40538704..40732080hg19UCSC Ensembl
Outerchr1:40311291..40504667hg18UCSC Ensembl
Outerchr1:40207797..40401173hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38193377
hg19193377
hg18193377
hg17193377
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1444717, nssv1444728, nssv1445107, nssv1444885, nssv1444940, nssv1445085, nssv1444784, nssv1444773, nssv1444929, nssv1444896, nssv1445062, nssv1445096, nssv1445051, nssv1444839, nssv1444863, nssv1445040, nssv1444963, nssv1445118, nssv1444695, nssv1444762, nssv1444996, nssv1444740, nssv1444951, nssv1445007, nssv1444907, nssv1444706, nssv1444985, nssv1444806, nssv1444874, nssv1445129, nssv1444795, nssv1445018, nssv1444974, nssv1444817, nssv1444751, nssv1444852, nssv1444918, nssv1445029, nssv1444828, nssv1445074
Samples
Known GenesPPT1, RLF, TMCO2, ZMPSTE24
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)nsv829660
Frequency
Sample Size95
Observed Gain3
Observed Loss37
Observed Complex0
Frequencyn/a


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