A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3379



Internal ID15191421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:112814535..112834150hg38UCSC Ensembl
Outerchr5:112150232..112169847hg19UCSC Ensembl
Outerchr5:112178131..112197746hg18UCSC Ensembl
Outerchr5:112178131..112197746hg17UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg385706
hg195706
hg185706
hg175706
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4959
Supporting Variants
SamplesNA12878
Known GenesAPC
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)nssv3379
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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