A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21429



Internal ID15484331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:816507..819627hg38UCSC Ensembl
Outerchr1:816507..820233hg38UCSC Ensembl
Innerchr1:751887..755007hg19UCSC Ensembl
Outerchr1:751887..755613hg19UCSC Ensembl
Innerchr1:741750..744870hg18UCSC Ensembl
Outerchr1:741750..745476hg18UCSC Ensembl
Innerchr1:791750..794870hg17UCSC Ensembl
Outerchr1:791750..795476hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg383727
hg193727
hg183727
hg173727
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10161
Supporting Variants
SamplesNA12740
Known GenesFAM87B
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)nssv21429
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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