A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511830



Internal ID15851255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:191694354..191697838hg38UCSC Ensembl
Outerchr2:192559080..192562564hg19UCSC Ensembl
Outerchr2:192267325..192270809hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg383485
hg193485
hg183485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626485
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511830
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