A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24616



Internal ID15493972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12834403..12860707hg38UCSC Ensembl
Outerchr1:12833755..12861089hg38UCSC Ensembl
Innerchr1:12894254..12920562hg19UCSC Ensembl
Outerchr1:12893609..12920944hg19UCSC Ensembl
Innerchr1:12816841..12843149hg18UCSC Ensembl
Outerchr1:12816196..12843531hg18UCSC Ensembl
Innerchr1:12828520..12854828hg17UCSC Ensembl
Outerchr1:12827875..12855210hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3827335
hg1927336
hg1827336
hg1727336
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18980
Known GenesHNRNPCL1, LOC649330, PRAMEF2
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)nssv24616
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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