A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14101



Internal ID15497939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25362566..25412403hg38UCSC Ensembl
Outerchr1:25362183..25441125hg38UCSC Ensembl
Innerchr1:25689057..25738894hg19UCSC Ensembl
Outerchr1:25688674..25767616hg19UCSC Ensembl
Innerchr1:25561644..25611481hg18UCSC Ensembl
Outerchr1:25561261..25640203hg18UCSC Ensembl
Innerchr1:25434373..25484210hg17UCSC Ensembl
Outerchr1:25433990..25512932hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3878943
hg1978943
hg1878943
hg1778943
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9768
Supporting Variants
SamplesNA19240
Known GenesRHCE, TMEM50A, TMEM57
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)nssv14101
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer