A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22422



Internal ID15832883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196742923..196854103hg38UCSC Ensembl
Outerchr1:196742493..196854473hg38UCSC Ensembl
Innerchr1:196712053..196823233hg19UCSC Ensembl
Outerchr1:196711623..196823603hg19UCSC Ensembl
Innerchr1:194978676..195089856hg18UCSC Ensembl
Outerchr1:194978246..195090226hg18UCSC Ensembl
Innerchr1:193443710..193554890hg17UCSC Ensembl
Outerchr1:193443280..193555260hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38111981
hg19111981
hg18111981
hg17111981
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8691
Supporting Variants
SamplesNA18502
Known GenesCFH, CFHR1, CFHR3
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)nssv22422
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