A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23378



Internal ID15832771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207668643..207673294hg38UCSC Ensembl
Outerchr1:207666908..207674530hg38UCSC Ensembl
Innerchr1:207841988..207846639hg19UCSC Ensembl
Outerchr1:207840253..207847875hg19UCSC Ensembl
Innerchr1:205908611..205913262hg18UCSC Ensembl
Outerchr1:205906876..205914498hg18UCSC Ensembl
Innerchr1:204230383..204235034hg17UCSC Ensembl
Outerchr1:204228648..204236270hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg387623
hg197623
hg187623
hg177623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8746
Supporting Variants
SamplesNA18502
Known GenesCR1L
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)nssv23378
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