A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12435



Internal ID15488070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13367093..13369715hg38UCSC Ensembl
Outerchr1:13363261..13370464hg38UCSC Ensembl
Innerchr1:13472715..13475337hg19UCSC Ensembl
Outerchr1:13468883..13476086hg19UCSC Ensembl
Innerchr1:13345302..13347924hg18UCSC Ensembl
Outerchr1:13341470..13348673hg18UCSC Ensembl
Innerchr1:13218021..13220643hg17UCSC Ensembl
Outerchr1:13214189..13221392hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg387204
hg197204
hg187204
hg177204
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18537
Known GenesPRAMEF18, PRAMEF19
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)nssv12435
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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