A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24775



Internal ID15496261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19153891..19224362hg38UCSC Ensembl
Outerchr17:19152946..19225307hg38UCSC Ensembl
Innerchr17:19057204..19127675hg19UCSC Ensembl
Outerchr17:19056259..19128620hg19UCSC Ensembl
Innerchr17:18997929..19068268hg18UCSC Ensembl
Outerchr17:18996984..19069213hg18UCSC Ensembl
Innerchr17:18997929..19068268hg17UCSC Ensembl
Outerchr17:18996984..19069213hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3872362
hg1972362
hg1872230
hg1772230
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA19173
Known GenesGRAPL
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)nssv24775
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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