A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv626413



Internal ID15849946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:11853178..11856218hg38UCSC Ensembl
Outerchr2:11993304..11996344hg19UCSC Ensembl
Outerchr2:11910755..11913795hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg383041
hg193041
hg183041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511765
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)nssv626413
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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