A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17007



Internal ID15841935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:170344003..170344531hg38UCSC Ensembl
Outerchr6:170343876..170345012hg38UCSC Ensembl
Innerchr6:170653091..170653619hg19UCSC Ensembl
Outerchr6:170652964..170654100hg19UCSC Ensembl
Innerchr6:170495016..170495544hg18UCSC Ensembl
Outerchr6:170494889..170496025hg18UCSC Ensembl
Innerchr6:170570723..170571251hg17UCSC Ensembl
Outerchr6:170570596..170571732hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381137
hg191137
hg181137
hg171137
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8017
Supporting Variants
SamplesNA19132
Known GenesFAM120B
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)nssv17007
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