A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17857



Internal ID15483560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39282527..39283053hg38UCSC Ensembl
Outerchr9:39282117..39283553hg38UCSC Ensembl
Innerchr9:39282524..39283050hg19UCSC Ensembl
Outerchr9:39282114..39283550hg19UCSC Ensembl
Innerchr9:39272524..39273050hg18UCSC Ensembl
Outerchr9:39272114..39273550hg18UCSC Ensembl
Innerchr9:39272524..39273050hg17UCSC Ensembl
Outerchr9:39272114..39273550hg17UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg381437
hg191437
hg181437
hg171437
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8450
Supporting Variants
SamplesNA11830
Known GenesCNTNAP3
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)nssv17857
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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