A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27737



Internal ID15837406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129937303..129938283hg38UCSC Ensembl
Outerchr2:129936433..129938761hg38UCSC Ensembl
Innerchr2:130694876..130695856hg19UCSC Ensembl
Outerchr2:130694006..130696334hg19UCSC Ensembl
Innerchr2:130411346..130412326hg18UCSC Ensembl
Outerchr2:130410476..130412804hg18UCSC Ensembl
Innerchr2:130411106..130412086hg17UCSC Ensembl
Outerchr2:130410236..130412564hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg382329
hg192329
hg182329
hg172329
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10157
Supporting Variants
SamplesNA18853
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)nssv27737
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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