A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv626381



Internal ID15849914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:224057607..224060352hg38UCSC Ensembl
Outerchr1:224245309..224248054hg19UCSC Ensembl
Outerchr1:222311932..222314677hg18UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg382746
hg192746
hg182746
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511736
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)nssv626381
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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