A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28295



Internal ID15834909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129937303..129949684hg38UCSC Ensembl
Outerchr2:129936433..129953888hg38UCSC Ensembl
Innerchr2:130694876..130707257hg19UCSC Ensembl
Outerchr2:130694006..130711461hg19UCSC Ensembl
Innerchr2:130411346..130423727hg18UCSC Ensembl
Outerchr2:130410476..130427931hg18UCSC Ensembl
Innerchr2:130411106..130423487hg17UCSC Ensembl
Outerchr2:130410236..130427691hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3817456
hg1917456
hg1817456
hg1717456
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10157
Supporting Variants
SamplesNA18537
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)nssv28295
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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