A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21244



Internal ID15828562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:108912637..108914481hg38UCSC Ensembl
Outerchr13:108910975..108915453hg38UCSC Ensembl
Innerchr13:109564985..109566829hg19UCSC Ensembl
Outerchr13:109563323..109567801hg19UCSC Ensembl
Innerchr13:108362986..108364830hg18UCSC Ensembl
Outerchr13:108361324..108365802hg18UCSC Ensembl
Innerchr13:108362986..108364830hg17UCSC Ensembl
Outerchr13:108361324..108365802hg17UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg384479
hg194479
hg184479
hg174479
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9106
Supporting Variants
SamplesNA10839
Known GenesMYO16
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)nssv21244
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