A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833735



Internal ID16457604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8694435..8764996hg38UCSC Ensembl
Outerchr19:8804783..8875725hg19UCSC Ensembl
Outerchr19:8665783..8736725hg18UCSC Ensembl
Outerchr19:8665783..8736725hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3870562
hg1970943
hg1870943
hg1770943
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1454329, nssv1454341, nssv1454335, nssv1454342, nssv1454328, nssv1454302, nssv1454345, nssv1454331, nssv1454334, nssv1454316, nssv1454353, nssv1454336, nssv1454354, nssv1454319, nssv1454313, nssv1454310, nssv1454318, nssv1454306, nssv1454339, nssv1454311, nssv1454314, nssv1454340, nssv1454303, nssv1454347, nssv1454337, nssv1454317, nssv1454327, nssv1454352, nssv1454344, nssv1454332, nssv1454321, nssv1454308, nssv1454338, nssv1454343, nssv1454305, nssv1454324, nssv1454346, nssv1454333, nssv1454330, nssv1454320, nssv1454323, nssv1454304, nssv1454326, nssv1454348, nssv1454307, nssv1454312, nssv1454351, nssv1454322, nssv1454315, nssv1454349, nssv1454350, nssv1454309, nssv1454355, nssv1454325
Samples
Known GenesACTL9, OR2Z1
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)nsv833735
Frequency
Sample Size95
Observed Gain52
Observed Loss2
Observed Complex0
Frequencyn/a


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