A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20989



Internal ID15490276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19224342..19224362hg38UCSC Ensembl
Outerchr17:19223425..19225307hg38UCSC Ensembl
Innerchr17:19127655..19127675hg19UCSC Ensembl
Outerchr17:19126738..19128620hg19UCSC Ensembl
Innerchr17:19068248..19068268hg18UCSC Ensembl
Outerchr17:19067331..19069213hg18UCSC Ensembl
Innerchr17:19068248..19068268hg17UCSC Ensembl
Outerchr17:19067331..19069213hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381883
hg191883
hg181883
hg171883
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)nssv20989
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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