A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20276



Internal ID15494583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10429113..10444534hg38UCSC Ensembl
Outerchr12:10428150..10510077hg38UCSC Ensembl
Innerchr12:10581712..10597133hg19UCSC Ensembl
Outerchr12:10580749..10662676hg19UCSC Ensembl
Innerchr12:10472979..10488400hg18UCSC Ensembl
Outerchr12:10472016..10553943hg18UCSC Ensembl
Innerchr12:10472979..10488400hg17UCSC Ensembl
Outerchr12:10472016..10553943hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3881928
hg1981928
hg1881928
hg1781928
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8914
Supporting Variants
SamplesNA19007
Known GenesKLRC1, KLRC2
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)nssv20276
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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