A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv626199



Internal ID15503046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:69897960..69898372hg38UCSC Ensembl
Outerchr2:69896432..69901214hg38UCSC Ensembl
Innerchr2:70125092..70125504hg19UCSC Ensembl
Outerchr2:70123564..70128346hg19UCSC Ensembl
Innerchr2:69978596..69979008hg18UCSC Ensembl
Outerchr2:69977068..69981850hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg384783
hg194783
hg184783
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511168
Supporting Variants
Samples1
Known GenesSNRNP27
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv626199
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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