A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv829660

Internal ID16106843
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:40073032..40266408hg38UCSC Ensembl
Outerchr1:40538704..40732080hg19UCSC Ensembl
Outerchr1:40311291..40504667hg18UCSC Ensembl
Outerchr1:40207797..40401173hg17UCSC Ensembl
Allele length
AssemblyAllele length
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
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.
Pubmed ID17160897
Accession Number(s)nsv829660
Sample Size95
Observed Gain3
Observed Loss37
Observed Complex0

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