A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13413



Internal ID15481491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25319716..25336569hg38UCSC Ensembl
Outerchr1:25318966..25337033hg38UCSC Ensembl
Innerchr1:25646207..25663060hg19UCSC Ensembl
Outerchr1:25645457..25663524hg19UCSC Ensembl
Innerchr1:25518794..25535647hg18UCSC Ensembl
Outerchr1:25518044..25536111hg18UCSC Ensembl
Innerchr1:25391523..25408376hg17UCSC Ensembl
Outerchr1:25390773..25408840hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3818068
hg1918068
hg1818068
hg1718068
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9768
Supporting Variants
SamplesNA07048
Known GenesRHD
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)nssv13413
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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