A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20741



Internal ID15832107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161449139..161449831hg38UCSC Ensembl
Outerchr1:161447382..161450241hg38UCSC Ensembl
Innerchr1:161418929..161419621hg19UCSC Ensembl
Outerchr1:161417172..161420031hg19UCSC Ensembl
Innerchr1:159685553..159686245hg18UCSC Ensembl
Outerchr1:159683796..159686655hg18UCSC Ensembl
Innerchr1:158231984..158232676hg17UCSC Ensembl
Outerchr1:158230227..158233086hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg382860
hg192860
hg182860
hg172860
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8491
Supporting Variants
SamplesNA12872
Known Genes
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)nssv20741
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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