A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4874



Internal ID15196317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:158691822..158725743hg38UCSC Ensembl
Outerchr5:158118830..158152751hg19UCSC Ensembl
Outerchr5:158051408..158085329hg18UCSC Ensembl
Outerchr5:158051408..158085329hg17UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg385364
hg195364
hg185364
hg175364
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5093
Supporting Variants
SamplesNA19129
Known GenesEBF1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv4874
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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