A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23170



Internal ID15497576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:136506754..136759655hg38UCSC Ensembl
Outerchr9:136505432..136760256hg38UCSC Ensembl
Innerchr9:139401206..139654107hg19UCSC Ensembl
Outerchr9:139399884..139654708hg19UCSC Ensembl
Innerchr9:138521027..138773928hg18UCSC Ensembl
Outerchr9:138519705..138774529hg18UCSC Ensembl
Innerchr9:136677043..136929944hg17UCSC Ensembl
Outerchr9:136675721..136930545hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38254825
hg19254825
hg18254825
hg17254825
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8579
Supporting Variants
SamplesNA19221
Known GenesAGPAT2, EGFL7, FAM69B, LCN10, LCN15, LCN6, LCN8, LOC100128593, MIR126, MIR4673, MIR4674, MIR6722, NOTCH1, SNHG7, SNORA17, SNORA43
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)nssv23170
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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