A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21047



Internal ID15489066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48143722..48364241hg38UCSC Ensembl
Outerchr12:48142743..48364718hg38UCSC Ensembl
Innerchr12:48537505..48758024hg19UCSC Ensembl
Outerchr12:48536526..48758501hg19UCSC Ensembl
Innerchr12:46823772..47044291hg18UCSC Ensembl
Outerchr12:46822793..47044768hg18UCSC Ensembl
Innerchr12:46823772..47044291hg17UCSC Ensembl
Outerchr12:46822793..47044768hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38221976
hg19221976
hg18221976
hg17221976
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8971
Supporting Variants
SamplesNA18563
Known GenesASB8, C12orf68, H1FNT, OR10AD1, PFKM, ZNF641
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)nssv21047
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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