A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967



Internal ID15835872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:63212..322407hg38UCSC Ensembl
Outerchr9:62805..322740hg38UCSC Ensembl
Innerchr9:63212..322407hg19UCSC Ensembl
Outerchr9:62805..322740hg19UCSC Ensembl
Innerchr9:53212..312407hg18UCSC Ensembl
Outerchr9:52805..312740hg18UCSC Ensembl
Innerchr9:53212..312407hg17UCSC Ensembl
Outerchr9:52805..312740hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38259936
hg19259936
hg18259936
hg17259936
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8403
Supporting Variants
SamplesNA18563
Known GenesC9orf66, CBWD1, DOCK8, FOXD4
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)nssv16967
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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