A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8158



Internal ID15189020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:139529492..139563397hg38UCSC Ensembl
Outerchr5:138909077..138942982hg19UCSC Ensembl
Outerchr5:138889261..138923166hg18UCSC Ensembl
Outerchr5:138889261..138923166hg17UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg385534
hg195534
hg185534
hg175534
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5028
Supporting Variants
SamplesNA12156
Known GenesUBE2D2
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)nssv8158
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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