A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243



Internal ID15839378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167139796..167143676hg38UCSC Ensembl
Outerchr6:167139227..167144820hg38UCSC Ensembl
Innerchr6:167553284..167557164hg19UCSC Ensembl
Outerchr6:167552715..167558308hg19UCSC Ensembl
Innerchr6:167473274..167477154hg18UCSC Ensembl
Outerchr6:167472705..167478298hg18UCSC Ensembl
Innerchr6:167523695..167527575hg17UCSC Ensembl
Outerchr6:167523126..167528719hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg385594
hg195594
hg185594
hg175594
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7999
Supporting Variants
SamplesNA18972
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)nssv17243
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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