A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9841



Internal ID15847753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:13065178..13095880hg38UCSC Ensembl
Outerchr21:14437499..14468201hg19UCSC Ensembl
Outerchr21:13359370..13390072hg18UCSC Ensembl
Outerchr21:13359370..13390072hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3830703
hg1930703
hg1830703
hg1730703
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28685
SamplesNA19221
Known GenesANKRD30BP2
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)nsv9841
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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