A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29148



Internal ID15491262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131308068..131313646hg38UCSC Ensembl
Outerchr2:131304288..131314972hg38UCSC Ensembl
Innerchr2:132065641..132071219hg19UCSC Ensembl
Outerchr2:132061861..132072545hg19UCSC Ensembl
Innerchr2:131782111..131787689hg18UCSC Ensembl
Outerchr2:131778331..131789015hg18UCSC Ensembl
Innerchr2:131899373..131904951hg17UCSC Ensembl
Outerchr2:131895593..131906277hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3810685
hg1910685
hg1810685
hg1710685
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA18860
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)nssv29148
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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