A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829704



Internal ID16453573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:44021727..44187432hg38UCSC Ensembl
Outerchr1:44487399..44653104hg19UCSC Ensembl
Outerchr1:44259986..44425691hg18UCSC Ensembl
Outerchr1:44156492..44322197hg17UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38165706
hg19165706
hg18165706
hg17165706
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1445207, nssv1445307, nssv1445296, nssv1445218, nssv1445340, nssv1445429, nssv1445418, nssv1445395, nssv1445362, nssv1445318, nssv1445229, nssv1445329, nssv1445251, nssv1445407, nssv1445284, nssv1445262, nssv1445173, nssv1445351, nssv1445240, nssv1445373, nssv1445273, nssv1445185, nssv1445196, nssv1445440, nssv1445384
Samples
Known GenesKLF17, SLC6A9
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)nsv829704
Frequency
Sample Size95
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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