A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20929



Internal ID15490437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19099427..19103977hg38UCSC Ensembl
Outerchr17:19099138..19104562hg38UCSC Ensembl
Innerchr17:19002740..19007290hg19UCSC Ensembl
Outerchr17:19002451..19007875hg19UCSC Ensembl
Innerchr17:18943465..18948015hg18UCSC Ensembl
Outerchr17:18943176..18948600hg18UCSC Ensembl
Innerchr17:18943465..18948015hg17UCSC Ensembl
Outerchr17:18943176..18948600hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg385425
hg195425
hg185425
hg175425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA18572
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)nssv20929
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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