A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16980



Internal ID15844099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32551272..32552131hg38UCSC Ensembl
Outerchr6:32550816..32552828hg38UCSC Ensembl
Innerchr6:32519049..32519908hg19UCSC Ensembl
Outerchr6:32518593..32520605hg19UCSC Ensembl
Innerchr6:32627027..32627886hg18UCSC Ensembl
Outerchr6:32626571..32628583hg18UCSC Ensembl
Innerchr6:32627027..32627886hg17UCSC Ensembl
Outerchr6:32626571..32628583hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg382013
hg192013
hg182013
hg172013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA19221
Known GenesHLA-DRB6
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)nssv16980
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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