A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25963



Internal ID15839683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145197911..145217426hg38UCSC Ensembl
Outerchr1:145196879..145221573hg38UCSC Ensembl
Innerchr1:144503067..144522545hg19UCSC Ensembl
Outerchr1:144502031..144527040hg19UCSC Ensembl
Innerchr1:143214424..143233902hg18UCSC Ensembl
Outerchr1:143213388..143238397hg18UCSC Ensembl
Innerchr1:142080422..142099900hg17UCSC Ensembl
Outerchr1:142079386..142104395hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3824695
hg1925010
hg1825010
hg1725010
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8025
Supporting Variants
SamplesNA18972
Known GenesLOC100288142, LOC728875
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)nssv25963
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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