A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27029



Internal ID15838889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:14541855..14543760hg38UCSC Ensembl
Outerchr2:14541705..14545862hg38UCSC Ensembl
Innerchr2:14681979..14683884hg19UCSC Ensembl
Outerchr2:14681829..14685986hg19UCSC Ensembl
Innerchr2:14599430..14601335hg18UCSC Ensembl
Outerchr2:14599280..14603437hg18UCSC Ensembl
Innerchr2:14632577..14634482hg17UCSC Ensembl
Outerchr2:14632427..14636584hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg384158
hg194158
hg184158
hg174158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9447
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)nssv27029
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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