A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13631



Internal ID15832269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160606460..160660011hg38UCSC Ensembl
Outerchr6:160606022..160660639hg38UCSC Ensembl
Innerchr6:161027492..161081043hg19UCSC Ensembl
Outerchr6:161027054..161081671hg19UCSC Ensembl
Innerchr6:160947482..161001033hg18UCSC Ensembl
Outerchr6:160947044..161001661hg18UCSC Ensembl
Innerchr6:160997903..161051454hg17UCSC Ensembl
Outerchr6:160997465..161052082hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3854618
hg1954618
hg1854618
hg1754618
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7986
Supporting Variants
SamplesNA12872
Known GenesLPA
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)nssv13631
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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