A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15522



Internal ID15832760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31264560..31266295hg38UCSC Ensembl
Outerchr6:31253517..31266893hg38UCSC Ensembl
Innerchr6:31232337..31234072hg19UCSC Ensembl
Outerchr6:31221294..31234670hg19UCSC Ensembl
Innerchr6:31340316..31342051hg18UCSC Ensembl
Outerchr6:31329273..31342649hg18UCSC Ensembl
Innerchr6:31340316..31342051hg17UCSC Ensembl
Outerchr6:31329273..31342649hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3813377
hg1913377
hg1813377
hg1713377
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10814
Supporting Variants
SamplesNA18502
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)nssv15522
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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