A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28546



Internal ID15489131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12901443..12904271hg38UCSC Ensembl
Outerchr1:12901351..12905045hg38UCSC Ensembl
Innerchr1:12961274..12964114hg19UCSC Ensembl
Outerchr1:12961182..12964889hg19UCSC Ensembl
Innerchr1:12883861..12886701hg18UCSC Ensembl
Outerchr1:12883769..12887476hg18UCSC Ensembl
Innerchr1:12895540..12898380hg17UCSC Ensembl
Outerchr1:12895448..12899155hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg383695
hg193708
hg183708
hg173708
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18563
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)nssv28546
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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