A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29088



Internal ID15491739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131220033..131230630hg38UCSC Ensembl
Outerchr2:131219188..131231837hg38UCSC Ensembl
Innerchr2:131977606..131988203hg19UCSC Ensembl
Outerchr2:131976761..131989410hg19UCSC Ensembl
Innerchr2:131694076..131704673hg18UCSC Ensembl
Outerchr2:131693231..131705880hg18UCSC Ensembl
Innerchr2:131811338..131821935hg17UCSC Ensembl
Outerchr2:131810493..131823142hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3812650
hg1912650
hg1812650
hg1712650
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA18860
Known GenesPOTEE
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)nssv29088
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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