A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830983



Internal ID9421834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:44068842..44201624hg38UCSC Ensembl
Outerchr7:44108441..44241223hg19UCSC Ensembl
Outerchr7:44074966..44207748hg18UCSC Ensembl
Outerchr7:43881681..44014463hg17UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38132783
hg19132783
hg18132783
hg17132783
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1446072, nssv1446071, nssv1446068, nssv1446078, nssv1446076, nssv1446075, nssv1446077, nssv1446070, nssv1446079, nssv1446069
Samples
Known GenesAEBP1, GCK, MIR4649, MIR6838, MYL7, POLD2, POLM, YKT6
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)nsv830983
Frequency
Sample Size95
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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