A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8909



Internal ID15500135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:9602291..9606098hg38UCSC Ensembl
Outerchr12:9754887..9758694hg19UCSC Ensembl
Outerchr12:9646154..9649961hg18UCSC Ensembl
Outerchr12:9646154..9649961hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg383808
hg193808
hg183808
hg173808
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20835, nssv23889, nssv20554, nssv20987, nssv20246
SamplesNA10839, NA18972, NA18563, NA18537, NA19007
Known GenesKLRB1
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)nsv8909
Frequency
Sample Size31
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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