A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15981



Internal ID15491555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29881914..29960952hg38UCSC Ensembl
Outerchr6:29875077..29965369hg38UCSC Ensembl
Innerchr6:29849691..29928729hg19UCSC Ensembl
Outerchr6:29842854..29933146hg19UCSC Ensembl
Innerchr6:29957670..30036708hg18UCSC Ensembl
Outerchr6:29950833..30041125hg18UCSC Ensembl
Innerchr6:29957670..30036708hg17UCSC Ensembl
Outerchr6:29950833..30041125hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3890293
hg1990293
hg1890293
hg1790293
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10810
Supporting Variants
SamplesNA18860
Known GenesHCG4B, HLA-A, 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)nssv15981
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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