A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16041



Internal ID15838669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31241720..31242441hg38UCSC Ensembl
Outerchr6:31240816..31242981hg38UCSC Ensembl
Innerchr6:31209497..31210218hg19UCSC Ensembl
Outerchr6:31208593..31210758hg19UCSC Ensembl
Innerchr6:31317476..31318197hg18UCSC Ensembl
Outerchr6:31316572..31318737hg18UCSC Ensembl
Innerchr6:31317476..31318197hg17UCSC Ensembl
Outerchr6:31316572..31318737hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg382166
hg192166
hg182166
hg172166
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10814
Supporting Variants
SamplesNA18860
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)nssv16041
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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