A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17500



Internal ID15485131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:61952408..62062574hg38UCSC Ensembl
Outerchr10:61896798..62246032hg38UCSC Ensembl
Innerchr10:63712167..63822333hg19UCSC Ensembl
Outerchr10:63656557..64005791hg19UCSC Ensembl
Innerchr10:63382173..63492339hg18UCSC Ensembl
Outerchr10:63326563..63675797hg18UCSC Ensembl
Innerchr10:63382173..63492339hg17UCSC Ensembl
Outerchr10:63326563..63675797hg17UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg38349235
hg19349235
hg18349235
hg17349235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8681
Supporting Variants
SamplesNA12802
Known GenesARID5B, MIR548AV, RTKN2
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)nssv17500
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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