A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23085



Internal ID15842913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145477893..145486911hg38UCSC Ensembl
Outerchr1:145476302..145487538hg38UCSC Ensembl
Innerchr1:145981551..145990549hg19UCSC Ensembl
Outerchr1:145979955..145991176hg19UCSC Ensembl
Innerchr1:144692908..144701906hg18UCSC Ensembl
Outerchr1:144691312..144702533hg18UCSC Ensembl
Innerchr1:143451100..143460098hg17UCSC Ensembl
Outerchr1:143449504..143460725hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3811237
hg1911222
hg1811222
hg1711222
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8125
Supporting Variants
SamplesNA19173
Known GenesLOC100288142, LOC101929780, NBPF10
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)nssv23085
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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