A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833446



Internal ID16457315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41059613..41247007hg38UCSC Ensembl
Outerchr17:39215865..39403259hg19UCSC Ensembl
Outerchr17:36469391..36656785hg18UCSC Ensembl
Outerchr17:36469391..36656785hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38187395
hg19187395
hg18187395
hg17187395
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1453403
Samples
Known GenesKRTAP2-3, KRTAP2-4, KRTAP4-1, KRTAP4-11, KRTAP4-12, KRTAP4-2, KRTAP4-3, KRTAP4-4, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP4-9, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-8
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)nsv833446
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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