A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9534



Internal ID15847446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30626384..30641336hg38UCSC Ensembl
Outerchr17:28953402..28968354hg19UCSC Ensembl
Outerchr17:25977528..25992480hg18UCSC Ensembl
Outerchr17:25977528..25992480hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3814953
hg1914953
hg1814953
hg1714953
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23663
SamplesNA18563
Known GenesLRRC37BP1, SH3GL1P2
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)nsv9534
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