A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21990



Internal ID15497289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39212921..39268550hg38UCSC Ensembl
Outerchr9:39212435..39269443hg38UCSC Ensembl
Innerchr9:39212918..39268547hg19UCSC Ensembl
Outerchr9:39212432..39269440hg19UCSC Ensembl
Innerchr9:39202918..39258547hg18UCSC Ensembl
Outerchr9:39202432..39259440hg18UCSC Ensembl
Innerchr9:39202918..39258547hg17UCSC Ensembl
Outerchr9:39202432..39259440hg17UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3857009
hg1957009
hg1857009
hg1757009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8450
Supporting Variants
SamplesNA19221
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)nssv21990
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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