A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10702



Internal ID15845665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:62214608..62256235hg38UCSC Ensembl
Outerchr5:61510435..61552062hg19UCSC Ensembl
Outerchr5:61546192..61587819hg18UCSC Ensembl
Outerchr5:61546192..61587819hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3841628
hg1941628
hg1841628
hg1741628
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14288, nssv14161, nssv13057
SamplesNA11830, NA12155, NA19240
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)nsv10702
Frequency
Sample Size31
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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