A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17372



Internal ID15480469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:68356906..68357260hg38UCSC Ensembl
Outerchr9:68356108..68357631hg38UCSC Ensembl
Innerchr9:70971822..70972176hg19UCSC Ensembl
Outerchr9:70971024..70972547hg19UCSC Ensembl
Innerchr9:70161642..70161996hg18UCSC Ensembl
Outerchr9:70160844..70162367hg18UCSC Ensembl
Innerchr9:68201376..68201730hg17UCSC Ensembl
Outerchr9:68200578..68202101hg17UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg381524
hg191524
hg181524
hg171524
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8519
Supporting Variants
SamplesNA07029
Known GenesPGM5, PGM5-AS1
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)nssv17372
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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