A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14057



Internal ID15836029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32529573..32530005hg38UCSC Ensembl
Outerchr6:32529168..32530401hg38UCSC Ensembl
Innerchr6:32497350..32497782hg19UCSC Ensembl
Outerchr6:32496945..32498178hg19UCSC Ensembl
Innerchr6:32605328..32605760hg18UCSC Ensembl
Outerchr6:32604923..32606156hg18UCSC Ensembl
Innerchr6:32605328..32605760hg17UCSC Ensembl
Outerchr6:32604923..32606156hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381234
hg191234
hg181234
hg171234
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA18563
Known GenesHLA-DRB5
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)nssv14057
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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