A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8291



Internal ID15846203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:143418907..143430622hg38UCSC Ensembl
Outerchr1:148922376..148934087hg19UCSC Ensembl
Outerchr1:147189000..147200711hg18UCSC Ensembl
Outerchr1:145701968..145713679hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3811716
hg1911712
hg1811712
hg1711712
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25725
SamplesNA19221
Known GenesLOC101929780, LOC645166
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)nsv8291
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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