A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20554



Internal ID15481979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9603253..9605570hg38UCSC Ensembl
Outerchr12:9602829..9606098hg38UCSC Ensembl
Innerchr12:9755849..9758166hg19UCSC Ensembl
Outerchr12:9755425..9758694hg19UCSC Ensembl
Innerchr12:9647116..9649433hg18UCSC Ensembl
Outerchr12:9646692..9649961hg18UCSC Ensembl
Innerchr12:9647116..9649433hg17UCSC Ensembl
Outerchr12:9646692..9649961hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg383270
hg193270
hg183270
hg173270
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8909
Supporting Variants
SamplesNA10839
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)nssv20554
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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