A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15128



Internal ID15483808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29881914..29938549hg38UCSC Ensembl
Outerchr6:29875077..29941052hg38UCSC Ensembl
Innerchr6:29849691..29906326hg19UCSC Ensembl
Outerchr6:29842854..29908829hg19UCSC Ensembl
Innerchr6:29957670..30014305hg18UCSC Ensembl
Outerchr6:29950833..30016808hg18UCSC Ensembl
Innerchr6:29957670..30014305hg17UCSC Ensembl
Outerchr6:29950833..30016808hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3865976
hg1965976
hg1865976
hg1765976
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10810
Supporting Variants
SamplesNA12155
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)nssv15128
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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