A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14004



Internal ID15839985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31240816..31241720hg38UCSC Ensembl
Outerchr6:31240056..31242441hg38UCSC Ensembl
Innerchr6:31208593..31209497hg19UCSC Ensembl
Outerchr6:31207833..31210218hg19UCSC Ensembl
Innerchr6:31316572..31317476hg18UCSC Ensembl
Outerchr6:31315812..31318197hg18UCSC Ensembl
Innerchr6:31316572..31317476hg17UCSC Ensembl
Outerchr6:31315812..31318197hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg382386
hg192386
hg182386
hg172386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10814
Supporting Variants
SamplesNA18975
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)nssv14004
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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