A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4838



Internal ID15543068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:58122230..58151103hg38UCSC Ensembl
Outerchr5:57418057..57446930hg19UCSC Ensembl
Outerchr5:57453814..57482687hg18UCSC Ensembl
Outerchr5:57453814..57482687hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3810410
hg1910410
hg1810410
hg1710410
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4841
Supporting Variants
SamplesNA19129
Known GenesLOC101928569
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)nssv4838
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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