A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14597



Internal ID15835787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160606460..160607108hg38UCSC Ensembl
Outerchr6:160606022..160607818hg38UCSC Ensembl
Innerchr6:161027492..161028140hg19UCSC Ensembl
Outerchr6:161027054..161028850hg19UCSC Ensembl
Innerchr6:160947482..160948130hg18UCSC Ensembl
Outerchr6:160947044..160948840hg18UCSC Ensembl
Innerchr6:160997903..160998551hg17UCSC Ensembl
Outerchr6:160997465..160999261hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg381797
hg191797
hg181797
hg171797
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7986
Supporting Variants
SamplesNA18563
Known GenesLPA
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)nssv14597
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