A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15516



Internal ID15829519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:170458220..170460150hg38UCSC Ensembl
Outerchr6:170457450..170460933hg38UCSC Ensembl
Innerchr6:170767308..170769238hg19UCSC Ensembl
Outerchr6:170766538..170770021hg19UCSC Ensembl
Innerchr6:170609233..170611163hg18UCSC Ensembl
Outerchr6:170608463..170611946hg18UCSC Ensembl
Innerchr6:170684940..170686870hg17UCSC Ensembl
Outerchr6:170684170..170687653hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg383484
hg193484
hg183484
hg173484
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8020
Supporting Variants
SamplesNA10863
Known Genes
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)nssv15516
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