A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24756



Internal ID15829377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13973171..13974902hg38UCSC Ensembl
Outerchr21:13970021..13977406hg38UCSC Ensembl
Innerchr21:15345492..15347223hg19UCSC Ensembl
Outerchr21:15342342..15349727hg19UCSC Ensembl
Innerchr21:14267363..14269094hg18UCSC Ensembl
Outerchr21:14264213..14271598hg18UCSC Ensembl
Innerchr21:14267363..14269094hg17UCSC Ensembl
Outerchr21:14264213..14271598hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg387386
hg197386
hg187386
hg177386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9853
Supporting Variants
SamplesNA10863
Known GenesANKRD20A11P
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)nssv24756
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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