A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22222



Internal ID15492028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19029500..19230144hg38UCSC Ensembl
Outerchr17:19029071..19230729hg38UCSC Ensembl
Innerchr17:18932813..19133457hg19UCSC Ensembl
Outerchr17:18932384..19134042hg19UCSC Ensembl
Innerchr17:18873538..19074050hg18UCSC Ensembl
Outerchr17:18873109..19074635hg18UCSC Ensembl
Innerchr17:18873538..19074050hg17UCSC Ensembl
Outerchr17:18873109..19074635hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38201659
hg19201659
hg18201527
hg17201527
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA18942
Known GenesGRAP, GRAPL
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)nssv22222
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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