A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831088



Internal ID16108271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:107856655..108053235hg38UCSC Ensembl
Outerchr7:107497100..107693680hg19UCSC Ensembl
Outerchr7:107284336..107480916hg18UCSC Ensembl
Outerchr7:107091051..107287631hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38196581
hg19196581
hg18196581
hg17196581
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1446383
Samples
Known GenesDLD, LAMB1, LAMB4
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)nsv831088
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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