A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830314



Internal ID16107497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3660776..3804275hg38UCSC Ensembl
Outerchr1:3577340..3720839hg19UCSC Ensembl
Outerchr1:3567200..3710699hg18UCSC Ensembl
Outerchr1:3600497..3743996hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38143500
hg19143500
hg18143500
hg17143500
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1441985, nssv1441918, nssv1441996, nssv1441874, nssv1441974, nssv1441907, nssv1441885, nssv1441896, nssv1441940, nssv1441963, nssv1441929, nssv1441951
Samples
Known GenesCCDC27, LRRC47, SMIM1, TP73, TP73-AS1
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)nsv830314
Frequency
Sample Size95
Observed Gain1
Observed Loss11
Observed Complex0
Frequencyn/a


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