A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14302



Internal ID15838786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:143586956..143588450hg38UCSC Ensembl
Outerchr6:143585821..143590650hg38UCSC Ensembl
Innerchr6:143908093..143909587hg19UCSC Ensembl
Outerchr6:143906958..143911787hg19UCSC Ensembl
Innerchr6:143949786..143951280hg18UCSC Ensembl
Outerchr6:143948651..143953480hg18UCSC Ensembl
Innerchr6:143949786..143951280hg17UCSC Ensembl
Outerchr6:143948651..143953480hg17UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg384830
hg194830
hg184830
hg174830
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7972
Supporting Variants
SamplesNA18942
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)nssv14302
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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