A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22425



Internal ID15488203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207648754..207653730hg38UCSC Ensembl
Outerchr1:207648348..207654279hg38UCSC Ensembl
Innerchr1:207822099..207827075hg19UCSC Ensembl
Outerchr1:207821693..207827624hg19UCSC Ensembl
Innerchr1:205888722..205893698hg18UCSC Ensembl
Outerchr1:205888316..205894247hg18UCSC Ensembl
Innerchr1:204210494..204215470hg17UCSC Ensembl
Outerchr1:204210088..204216019hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg385932
hg195932
hg185932
hg175932
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8735
Supporting Variants
SamplesNA18537
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)nssv22425
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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