A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12113



Internal ID15492521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12835552..12910575hg38UCSC Ensembl
Outerchr1:12834462..12910846hg38UCSC Ensembl
Innerchr1:12895403..12970419hg19UCSC Ensembl
Outerchr1:12894313..12970690hg19UCSC Ensembl
Innerchr1:12817990..12893006hg18UCSC Ensembl
Outerchr1:12816900..12893277hg18UCSC Ensembl
Innerchr1:12829669..12904685hg17UCSC Ensembl
Outerchr1:12828579..12904956hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3876385
hg1976378
hg1876378
hg1776378
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18972
Known GenesHNRNPCL1, LOC649330, PRAMEF10, PRAMEF2, PRAMEF4
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)nssv12113
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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