A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28177



Internal ID15497371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19123843..19147178hg38UCSC Ensembl
Outerchr17:19119499..19147620hg38UCSC Ensembl
Innerchr17:19027156..19050491hg19UCSC Ensembl
Outerchr17:19022812..19050933hg19UCSC Ensembl
Innerchr17:18967881..18991216hg18UCSC Ensembl
Outerchr17:18963537..18991658hg18UCSC Ensembl
Innerchr17:18967881..18991216hg17UCSC Ensembl
Outerchr17:18963537..18991658hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3828122
hg1928122
hg1828122
hg1728122
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA19221
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)nssv28177
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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