A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23198



Internal ID15497285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:136845917..136861020hg38UCSC Ensembl
Outerchr9:136845406..136862518hg38UCSC Ensembl
Innerchr9:139740369..139755472hg19UCSC Ensembl
Outerchr9:139739858..139756970hg19UCSC Ensembl
Innerchr9:138860190..138875293hg18UCSC Ensembl
Outerchr9:138859679..138876791hg18UCSC Ensembl
Innerchr9:137016206..137031309hg17UCSC Ensembl
Outerchr9:137015695..137032807hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3817113
hg1917113
hg1817113
hg1717113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8582
Supporting Variants
SamplesNA19221
Known GenesC9orf172, EDF1, MAMDC4, PHPT1
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)nssv23198
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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