A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9549



Internal ID15847461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:38464506..38531533hg38UCSC Ensembl
Outerchr17:36620747..36687768hg19UCSC Ensembl
Outerchr17:33874273..33941294hg18UCSC Ensembl
Outerchr17:33874273..33941294hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3867028
hg1967022
hg1867022
hg1767022
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28273
SamplesNA19221
Known GenesARHGAP23, SRCIN1
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)nsv9549
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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