A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834543



Internal ID9425394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219226398..219416430hg38UCSC Ensembl
Outerchr2:220091120..220281152hg19UCSC Ensembl
Outerchr2:219799364..219989396hg18UCSC Ensembl
Outerchr2:219916625..220106657hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38190033
hg19190033
hg18190033
hg17190033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1442555
Samples
Known GenesANKZF1, ATG9A, DNAJB2, DNPEP, GLB1L, MIR153-1, PTPRN, RESP18, STK16, TUBA4A, TUBA4B
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)nsv834543
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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