A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9435



Internal ID15847347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:21411250..21473702hg38UCSC Ensembl
Outerchr1:21737743..21800195hg19UCSC Ensembl
Outerchr1:21610330..21672782hg18UCSC Ensembl
Outerchr1:21483049..21545501hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3862453
hg1962453
hg1862453
hg1762453
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14412, nssv15120, nssv16109
SamplesNA18502, NA19221, NA19173
Known GenesNBPF3
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)nsv9435
Frequency
Sample Size31
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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