A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28197



Internal ID15836086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94678560..94750786hg38UCSC Ensembl
Outerchr2:94674813..94751218hg38UCSC Ensembl
Innerchr2:95344285..95416531hg19UCSC Ensembl
Outerchr2:95340538..95416963hg19UCSC Ensembl
Innerchr2:94708012..94780258hg18UCSC Ensembl
Outerchr2:94704265..94780690hg18UCSC Ensembl
Innerchr2:94766159..94838405hg17UCSC Ensembl
Outerchr2:94762412..94838837hg17UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3876406
hg1976426
hg1876426
hg1776426
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10087
Supporting Variants
SamplesNA18563
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)nssv28197
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer