A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29265



Internal ID15489984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13104355..13121879hg38UCSC Ensembl
Outerchr1:13103100..13123671hg38UCSC Ensembl
Innerchr1:13171823..13189352hg19UCSC Ensembl
Outerchr1:13170568..13190000hg19UCSC Ensembl
Innerchr1:13094410..13110000hg18UCSC Ensembl
Outerchr1:13093155..13110000hg18UCSC Ensembl
Innerchr1:12995806..13013335hg17UCSC Ensembl
Outerchr1:12994551..13015127hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3820572
hg1919433
hg1816846
hg1720577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18564
Known GenesHNRNPCP5
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)nssv29265
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