A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20424



Internal ID15493276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152213806..152219131hg38UCSC Ensembl
Outerchr1:152212852..152221607hg38UCSC Ensembl
Innerchr1:152186282..152191607hg19UCSC Ensembl
Outerchr1:152185328..152194083hg19UCSC Ensembl
Innerchr1:150452906..150458231hg18UCSC Ensembl
Outerchr1:150451952..150460707hg18UCSC Ensembl
Innerchr1:148999355..149004680hg17UCSC Ensembl
Outerchr1:148998401..149007156hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg388756
hg198756
hg188756
hg178756
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8391
Supporting Variants
SamplesNA18975
Known GenesHRNR
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)nssv20424
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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