A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21777



Internal ID15841775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161442413..161481926hg38UCSC Ensembl
Outerchr1:161441721..161482466hg38UCSC Ensembl
Innerchr1:161412203..161451716hg19UCSC Ensembl
Outerchr1:161411511..161452256hg19UCSC Ensembl
Innerchr1:159678827..159718340hg18UCSC Ensembl
Outerchr1:159678135..159718880hg18UCSC Ensembl
Innerchr1:158225276..158264771hg17UCSC Ensembl
Outerchr1:158224584..158265311hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3840746
hg1940746
hg1840746
hg1740728
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8491
Supporting Variants
SamplesNA19132
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)nssv21777
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