A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14567



Internal ID15835800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:151034725..151048760hg38UCSC Ensembl
Outerchr6:151034211..151051521hg38UCSC Ensembl
Innerchr6:151355861..151369896hg19UCSC Ensembl
Outerchr6:151355347..151372657hg19UCSC Ensembl
Innerchr6:151397554..151411589hg18UCSC Ensembl
Outerchr6:151397040..151414350hg18UCSC Ensembl
Innerchr6:151447975..151462010hg17UCSC Ensembl
Outerchr6:151447461..151464771hg17UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3817311
hg1917311
hg1817311
hg1717311
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7978
Supporting Variants
SamplesNA18563
Known GenesMTHFD1L
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)nssv14567
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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