A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16523



Internal ID15492668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29883718..29934506hg38UCSC Ensembl
Outerchr6:29881914..29935327hg38UCSC Ensembl
Innerchr6:29851495..29902283hg19UCSC Ensembl
Outerchr6:29849691..29903104hg19UCSC Ensembl
Innerchr6:29959474..30010262hg18UCSC Ensembl
Outerchr6:29957670..30011083hg18UCSC Ensembl
Innerchr6:29959474..30010262hg17UCSC Ensembl
Outerchr6:29957670..30011083hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3853414
hg1953414
hg1853414
hg1753414
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10810
Supporting Variants
SamplesNA18972
Known GenesHCG4B, HLA-H
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)nssv16523
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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