A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714



Internal ID15834213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:170466156..170467773hg38UCSC Ensembl
Outerchr6:170465463..170468348hg38UCSC Ensembl
Innerchr6:170775244..170776861hg19UCSC Ensembl
Outerchr6:170774551..170777436hg19UCSC Ensembl
Innerchr6:170617169..170618786hg18UCSC Ensembl
Outerchr6:170616476..170619361hg18UCSC Ensembl
Innerchr6:170692876..170694493hg17UCSC Ensembl
Outerchr6:170692183..170695068hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg382886
hg192886
hg182886
hg172886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8020
Supporting Variants
SamplesNA18517
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)nssv17714
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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