A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18638



Internal ID15484215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39211484..39211829hg38UCSC Ensembl
Outerchr9:39210881..39212326hg38UCSC Ensembl
Innerchr9:39211481..39211826hg19UCSC Ensembl
Outerchr9:39210878..39212323hg19UCSC Ensembl
Innerchr9:39201481..39201826hg18UCSC Ensembl
Outerchr9:39200878..39202323hg18UCSC Ensembl
Innerchr9:39201481..39201826hg17UCSC Ensembl
Outerchr9:39200878..39202323hg17UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg381446
hg191446
hg181446
hg171446
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8450
Supporting Variants
SamplesNA12155
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)nssv18638
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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