A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14939



Internal ID15843141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:52928445..52931324hg38UCSC Ensembl
Outerchr6:52928029..52932754hg38UCSC Ensembl
Innerchr6:52793243..52796122hg19UCSC Ensembl
Outerchr6:52792827..52797552hg19UCSC Ensembl
Innerchr6:52901202..52904081hg18UCSC Ensembl
Outerchr6:52900786..52905511hg18UCSC Ensembl
Innerchr6:52901202..52904081hg17UCSC Ensembl
Outerchr6:52900786..52905511hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg384726
hg194726
hg184726
hg174726
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7899
Supporting Variants
SamplesNA19173
Known Genes
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)nssv14939
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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