A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17422



Internal ID15839140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145208735..145215623hg38UCSC Ensembl
Outerchr1:145208583..145216294hg38UCSC Ensembl
Innerchr1:144513873..144520758hg19UCSC Ensembl
Outerchr1:144513721..144521622hg19UCSC Ensembl
Innerchr1:143225230..143232115hg18UCSC Ensembl
Outerchr1:143225078..143232979hg18UCSC Ensembl
Innerchr1:142091228..142098113hg17UCSC Ensembl
Outerchr1:142091076..142098977hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg387712
hg197902
hg187902
hg177902
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8025
Supporting Variants
SamplesNA18942
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)nssv17422
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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