A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29269



Internal ID15492388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12917147..12931908hg38UCSC Ensembl
Outerchr1:12916359..12932082hg38UCSC Ensembl
Innerchr1:12976967..12991738hg19UCSC Ensembl
Outerchr1:12976170..12991912hg19UCSC Ensembl
Innerchr1:12899554..12914325hg18UCSC Ensembl
Outerchr1:12898757..12914499hg18UCSC Ensembl
Innerchr1:12911233..12926004hg17UCSC Ensembl
Outerchr1:12910436..12926178hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3815724
hg1915743
hg1815743
hg1715743
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18942
Known GenesPRAMEF7, PRAMEF8
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)nssv29269
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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