A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21383



Internal ID15839515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:40146922..40159831hg38UCSC Ensembl
Outerchr9:40145028..40162379hg38UCSC Ensembl
Innerchr9:43196972..43209851hg19UCSC Ensembl
Outerchr9:43194424..43211745hg19UCSC Ensembl
Innerchr9:43186968..43199847hg18UCSC Ensembl
Outerchr9:43184420..43201741hg18UCSC Ensembl
Innerchr9:45442218..45455127hg17UCSC Ensembl
Outerchr9:45440324..45457675hg17UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3817352
hg1917322
hg1817322
hg1717352
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8483
Supporting Variants
SamplesNA18972
Known Genes
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)nssv21383
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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