A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27511



Internal ID15486482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64115374..64290068hg38UCSC Ensembl
Outerchr2:64114580..64291097hg38UCSC Ensembl
Innerchr2:64342508..64517202hg19UCSC Ensembl
Outerchr2:64341714..64518231hg19UCSC Ensembl
Innerchr2:64196012..64370706hg18UCSC Ensembl
Outerchr2:64195218..64371735hg18UCSC Ensembl
Innerchr2:64254159..64428853hg17UCSC Ensembl
Outerchr2:64253365..64429882hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38176518
hg19176518
hg18176518
hg17176518
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9957
Supporting Variants
SamplesNA18502
Known GenesLINC00309, PELI1
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)nssv27511
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