A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9539



Internal ID15500765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:33358415..33598698hg38UCSC Ensembl
Outerchr17:31685433..31925717hg19UCSC Ensembl
Outerchr17:28709546..28949830hg18UCSC Ensembl
Outerchr17:28709546..28949830hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38240284
hg19240285
hg18240285
hg17240285
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26960
SamplesNA18502
Known GenesAA06, ASIC2
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)nsv9539
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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