A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv498



Internal ID15544966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:138711744..138744516hg38UCSC Ensembl
Outerchr5:138047433..138080205hg19UCSC Ensembl
Outerchr5:138075332..138108104hg18UCSC Ensembl
Outerchr5:138075332..138108104hg17UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg387392
hg197392
hg187392
hg177392
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5026
Supporting Variants
SamplesNA19240
Known Genes
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)nssv498
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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