A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7971



Internal ID15845883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:134310014..134312492hg38UCSC Ensembl
Outerchr6:134631152..134633630hg19UCSC Ensembl
Outerchr6:134672845..134675323hg18UCSC Ensembl
Outerchr6:134672845..134675323hg17UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg382479
hg192479
hg182479
hg172479
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14695
SamplesNA18980
Known GenesSGK1
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)nsv7971
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