A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834061



Internal ID16457930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:20507731..20682273hg38UCSC Ensembl
Outerchr21:21880043..22054587hg19UCSC Ensembl
Outerchr21:20801914..20976458hg18UCSC Ensembl
Outerchr21:20801914..20976458hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38174543
hg19174545
hg18174545
hg17174545
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1455557, nssv1455526, nssv1455525, nssv1455530, nssv1455532, nssv1455563, nssv1455558, nssv1455561, nssv1455514, nssv1455516, nssv1455536, nssv1455545, nssv1455520, nssv1455556, nssv1455533, nssv1455552, nssv1455546, nssv1455541, nssv1455519, nssv1455562, nssv1455549, nssv1455510, nssv1455538, nssv1455512, nssv1455507, nssv1455555, nssv1455517, nssv1455543, nssv1455535, nssv1455518, nssv1455509, nssv1455528, nssv1455560, nssv1455554, nssv1455551, nssv1455511, nssv1455550, nssv1455529, nssv1455515, nssv1455548, nssv1455527, nssv1455508, nssv1455537, nssv1455542, nssv1455513, nssv1455540, nssv1455544, nssv1455521, nssv1455559, nssv1455547, nssv1455553, nssv1455524, nssv1455539, nssv1455531, nssv1455523, nssv1455534, nssv1455522
Samples
Known Genes
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)nsv834061
Frequency
Sample Size95
Observed Gain52
Observed Loss5
Observed Complex0
Frequencyn/a


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