A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834247



Internal ID16111430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16560068..16670676hg38UCSC Ensembl
Outerchr1:16886563..16997171hg19UCSC Ensembl
Outerchr1:16759150..16869758hg18UCSC Ensembl
Outerchr1:16631869..16742477hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38110609
hg19110609
hg18110609
hg17110609
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1443284, nssv1443340, nssv1443262, nssv1443307, nssv1443384, nssv1443296, nssv1443373, nssv1443351, nssv1443273, nssv1443318, nssv1443362, nssv1443329
Samples
Known GenesCROCCP2, MST1P2, NBPF1
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)nsv834247
Frequency
Sample Size95
Observed Gain1
Observed Loss11
Observed Complex0
Frequencyn/a


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