A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20885



Internal ID15828973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:32033728..32034142hg38UCSC Ensembl
Outerchr17:32032635..32034786hg38UCSC Ensembl
Innerchr17:30360747..30361161hg19UCSC Ensembl
Outerchr17:30359654..30361805hg19UCSC Ensembl
Innerchr17:27384860..27385274hg18UCSC Ensembl
Outerchr17:27383767..27385918hg18UCSC Ensembl
Innerchr17:27384860..27385274hg17UCSC Ensembl
Outerchr17:27383767..27385918hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382152
hg192152
hg182152
hg172152
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9536
Supporting Variants
SamplesNA10847
Known GenesLRRC37B
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)nssv20885
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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