A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512792



Internal ID15852214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241693927..241695158hg38UCSC Ensembl
Outerchr2:242633342..242634573hg19UCSC Ensembl
Outerchr2:242282015..242283246hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38966
hg19966
hg18966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625425
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)nsv512792
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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