A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv479



Internal ID15198446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:79130078..79150892hg38UCSC Ensembl
Outerchr5:78425901..78446715hg19UCSC Ensembl
Outerchr5:78461657..78482471hg18UCSC Ensembl
Outerchr5:78461657..78482471hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg388818
hg198818
hg188818
hg178818
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4892
Supporting Variants
SamplesNA19240
Known GenesBHMT
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)nssv479
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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