A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12773



Internal ID15492543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13095713..13097445hg38UCSC Ensembl
Outerchr1:13095102..13098002hg38UCSC Ensembl
Innerchr1:13163184..13164917hg19UCSC Ensembl
Outerchr1:13162573..13165474hg19UCSC Ensembl
Innerchr1:13085771..13087504hg18UCSC Ensembl
Outerchr1:13085160..13088061hg18UCSC Ensembl
Innerchr1:12987167..12988900hg17UCSC Ensembl
Outerchr1:12986556..12989457hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg382901
hg192902
hg182902
hg172902
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18972
Known Genes
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)nssv12773
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