A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28521



Internal ID15838768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129937303..129960548hg38UCSC Ensembl
Outerchr2:129936433..129961118hg38UCSC Ensembl
Innerchr2:130694876..130718121hg19UCSC Ensembl
Outerchr2:130694006..130718691hg19UCSC Ensembl
Innerchr2:130411346..130434591hg18UCSC Ensembl
Outerchr2:130410476..130435161hg18UCSC Ensembl
Innerchr2:130411106..130434351hg17UCSC Ensembl
Outerchr2:130410236..130434921hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3824686
hg1924686
hg1824686
hg1724686
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10157
Supporting Variants
SamplesNA18942
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)nssv28521
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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