A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10814



Internal ID15845777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31240056..31270843hg38UCSC Ensembl
Outerchr6:31207833..31238620hg19UCSC Ensembl
Outerchr6:31315812..31346599hg18UCSC Ensembl
Outerchr6:31315812..31346599hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3830788
hg1930788
hg1830788
hg1730788
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14358, nssv14554, nssv14856, nssv14004, nssv13300, nssv15522, nssv16041, nssv14626, nssv14107
SamplesNA18502, NA11830, NA12802, NA18860, NA10839, NA18975, NA10863, NA18564, NA18552
Known GenesHLA-C
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)nsv10814
Frequency
Sample Size31
Observed Gain4
Observed Loss5
Observed Complex0
Frequencyn/a


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