A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28109



Internal ID15843259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:29418784..29421876hg38UCSC Ensembl
Outerchr2:29418080..29422792hg38UCSC Ensembl
Innerchr2:29641650..29644742hg19UCSC Ensembl
Outerchr2:29640946..29645658hg19UCSC Ensembl
Innerchr2:29495154..29498246hg18UCSC Ensembl
Outerchr2:29494450..29499162hg18UCSC Ensembl
Innerchr2:29553301..29556393hg17UCSC Ensembl
Outerchr2:29552597..29557309hg17UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg384713
hg194713
hg184713
hg174713
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9480
Supporting Variants
SamplesNA19173
Known GenesALK
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)nssv28109
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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