A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20428



Internal ID15495695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:224196142..224458648hg38UCSC Ensembl
Outerchr1:224195321..224564829hg38UCSC Ensembl
Innerchr1:224383844..224646350hg19UCSC Ensembl
Outerchr1:224383023..224752531hg19UCSC Ensembl
Innerchr1:222450467..222712973hg18UCSC Ensembl
Outerchr1:222449646..222819154hg18UCSC Ensembl
Innerchr1:220690579..220953085hg17UCSC Ensembl
Outerchr1:220689758..221059266hg17UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg38369509
hg19369509
hg18369509
hg17369509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8868
Supporting Variants
SamplesNA19144
Known GenesCNIH4, MIR320B2, MIR4742, NVL, WDR26
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)nssv20428
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