A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23470



Internal ID15837501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20800530..20803839hg38UCSC Ensembl
Outerchr17:20799742..20805815hg38UCSC Ensembl
Innerchr17:20703843..20707152hg19UCSC Ensembl
Outerchr17:20703055..20709128hg19UCSC Ensembl
Innerchr17:20644435..20647744hg18UCSC Ensembl
Outerchr17:20643647..20649720hg18UCSC Ensembl
Innerchr17:20644435..20647744hg17UCSC Ensembl
Outerchr17:20643647..20649720hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg386074
hg196074
hg186074
hg176074
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9512
Supporting Variants
SamplesNA18853
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)nssv23470
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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