A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17753



Internal ID15839395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21805465..21810850hg38UCSC Ensembl
Outerchr1:21802085..21811478hg38UCSC Ensembl
Innerchr1:22131958..22137343hg19UCSC Ensembl
Outerchr1:22128578..22137971hg19UCSC Ensembl
Innerchr1:22004545..22009930hg18UCSC Ensembl
Outerchr1:22001165..22010558hg18UCSC Ensembl
Innerchr1:21877264..21882649hg17UCSC Ensembl
Outerchr1:21873884..21883277hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg389394
hg199394
hg189394
hg179394
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9546
Supporting Variants
SamplesNA18972
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)nssv17753
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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