A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21750



Internal ID15497209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:12044..45316hg38UCSC Ensembl
Outerchr9:10001..47270hg38UCSC Ensembl
Innerchr9:12044..45316hg19UCSC Ensembl
Outerchr9:10001..47270hg19UCSC Ensembl
Innerchr9:2044..35316hg18UCSC Ensembl
Outerchr9:1..37270hg18UCSC Ensembl
Innerchr9:2044..35316hg17UCSC Ensembl
Outerchr9:1..37270hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3837270
hg1937270
hg1837270
hg1737270
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8400
Supporting Variants
SamplesNA19221
Known GenesDDX11L5, FAM138C, WASH1
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)nssv21750
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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