A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15316



Internal ID15835252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:168315338..168320078hg38UCSC Ensembl
Outerchr6:168314570..168326337hg38UCSC Ensembl
Innerchr6:168716018..168720758hg19UCSC Ensembl
Outerchr6:168715250..168727017hg19UCSC Ensembl
Innerchr6:168458867..168463607hg18UCSC Ensembl
Outerchr6:168458099..168469866hg18UCSC Ensembl
Innerchr6:168534574..168539314hg17UCSC Ensembl
Outerchr6:168533806..168545573hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3811768
hg1911768
hg1811768
hg1711768
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8007
Supporting Variants
SamplesNA18552
Known GenesDACT2
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)nssv15316
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