A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24892



Internal ID15835559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44239964..44240913hg38UCSC Ensembl
Outerchr2:44239846..44242909hg38UCSC Ensembl
Innerchr2:44467103..44468052hg19UCSC Ensembl
Outerchr2:44466985..44470048hg19UCSC Ensembl
Innerchr2:44320607..44321556hg18UCSC Ensembl
Outerchr2:44320489..44323552hg18UCSC Ensembl
Innerchr2:44378754..44379703hg17UCSC Ensembl
Outerchr2:44378636..44381699hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383064
hg193064
hg183064
hg173064
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9691
Supporting Variants
SamplesNA18552
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)nssv24892
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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