A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28279



Internal ID15844280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41323229..41342904hg38UCSC Ensembl
Outerchr17:41322596..41343519hg38UCSC Ensembl
Innerchr17:39479481..39499156hg19UCSC Ensembl
Outerchr17:39478848..39499771hg19UCSC Ensembl
Innerchr17:36733007..36752682hg18UCSC Ensembl
Outerchr17:36732374..36753297hg18UCSC Ensembl
Innerchr17:36733007..36752682hg17UCSC Ensembl
Outerchr17:36732374..36753297hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3820924
hg1920924
hg1820924
hg1720924
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9552
Supporting Variants
SamplesNA19221
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)nssv28279
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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