A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7949



Internal ID15499175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:104811955..104823533hg38UCSC Ensembl
Outerchr6:105259830..105271408hg19UCSC Ensembl
Outerchr6:105366523..105378101hg18UCSC Ensembl
Outerchr6:105366523..105378101hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3811579
hg1911579
hg1811579
hg1711579
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17490
SamplesNA19221
Known GenesHACE1
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)nsv7949
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