A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20277



Internal ID15495430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39151612..39280746hg38UCSC Ensembl
Outerchr9:39150978..39281281hg38UCSC Ensembl
Innerchr9:39151609..39280743hg19UCSC Ensembl
Outerchr9:39150975..39281278hg19UCSC Ensembl
Innerchr9:39141609..39270743hg18UCSC Ensembl
Outerchr9:39140975..39271278hg18UCSC Ensembl
Innerchr9:39141609..39270743hg17UCSC Ensembl
Outerchr9:39140975..39271278hg17UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38130304
hg19130304
hg18130304
hg17130304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8450
Supporting Variants
SamplesNA19132
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)nssv20277
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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