A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8971



Internal ID15500197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:48142743..48364718hg38UCSC Ensembl
Outerchr12:48536526..48758501hg19UCSC Ensembl
Outerchr12:46822793..47044768hg18UCSC Ensembl
Outerchr12:46822793..47044768hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38221976
hg19221976
hg18221976
hg17221976
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21548, nssv20764, nssv18731, nssv20523, nssv18520, nssv21047, nssv21547
SamplesNA12802, NA10839, NA12155, NA18563, NA07048, NA12872, NA11830
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)nsv8971
Frequency
Sample Size31
Observed Gain1
Observed Loss6
Observed Complex0
Frequencyn/a


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