A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12752



Internal ID15480550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13313778..13314782hg38UCSC Ensembl
Outerchr1:13313266..13315399hg38UCSC Ensembl
Innerchr1:13419373..13420377hg19UCSC Ensembl
Outerchr1:13418861..13420994hg19UCSC Ensembl
Innerchr1:13291960..13292964hg18UCSC Ensembl
Outerchr1:13291448..13293581hg18UCSC Ensembl
Innerchr1:13164679..13165683hg17UCSC Ensembl
Outerchr1:13164167..13166300hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg382134
hg192134
hg182134
hg172134
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA07029
Known Genes
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)nssv12752
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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