A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24383



Internal ID15828342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:64843068..64933979hg38UCSC Ensembl
Outerchr17:64841777..64934022hg38UCSC Ensembl
Innerchr17:62839186..62930097hg19UCSC Ensembl
Outerchr17:62837895..62930140hg19UCSC Ensembl
Innerchr17:60269648..60360559hg18UCSC Ensembl
Outerchr17:60268357..60360602hg18UCSC Ensembl
Innerchr17:60269648..60360559hg17UCSC Ensembl
Outerchr17:60268357..60360602hg17UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3892246
hg1992246
hg1892246
hg1792246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9585
Supporting Variants
SamplesNA10839
Known GenesLRRC37A3
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)nssv24383
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer