A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv626485



Internal ID15850018
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 StatusS
Merged Variantsnsv511830
Supporting Variants
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)nssv626485
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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