A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20418



Internal ID15836367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145214180..145214181hg38UCSC Ensembl
Outerchr1:145213097..145214482hg38UCSC Ensembl
Innerchr1:144519316..144519317hg19UCSC Ensembl
Outerchr1:144518230..144519618hg19UCSC Ensembl
Innerchr1:143230673..143230674hg18UCSC Ensembl
Outerchr1:143229587..143230975hg18UCSC Ensembl
Innerchr1:142096671..142096672hg17UCSC Ensembl
Outerchr1:142095585..142096973hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381386
hg191389
hg181389
hg171389
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8025
Supporting Variants
SamplesNA18564
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)nssv20418
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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