A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28917



Internal ID15497312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55700194..55704026hg38UCSC Ensembl
Outerchr2:55698062..55707250hg38UCSC Ensembl
Innerchr2:55927329..55931161hg19UCSC Ensembl
Outerchr2:55925197..55934385hg19UCSC Ensembl
Innerchr2:55780833..55784665hg18UCSC Ensembl
Outerchr2:55778701..55787889hg18UCSC Ensembl
Innerchr2:55838980..55842812hg17UCSC Ensembl
Outerchr2:55836848..55846036hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg389189
hg199189
hg189189
hg179189
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9802
Supporting Variants
SamplesNA19221
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)nssv28917
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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