A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18320



Internal ID15837673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:4248178..4249329hg38UCSC Ensembl
Outerchr10:4247407..4250333hg38UCSC Ensembl
Innerchr10:4290370..4291521hg19UCSC Ensembl
Outerchr10:4289599..4292525hg19UCSC Ensembl
Innerchr10:4280370..4281521hg18UCSC Ensembl
Outerchr10:4279599..4282525hg18UCSC Ensembl
Innerchr10:4280370..4281521hg17UCSC Ensembl
Outerchr10:4279599..4282525hg17UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg382927
hg192927
hg182927
hg172927
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8597
Supporting Variants
SamplesNA18853
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv18320
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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