A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4847



Internal ID15196365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:80009905..80043209hg38UCSC Ensembl
Outerchr5:79305728..79339032hg19UCSC Ensembl
Outerchr5:79341484..79374788hg18UCSC Ensembl
Outerchr5:79341484..79374788hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg385962
hg195962
hg185962
hg175962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4894
Supporting Variants
SamplesNA19129
Known GenesTHBS4
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)nssv4847
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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