A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533



Internal ID15544660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:25068903..25070516hg38UCSC Ensembl
Outerchr6:25069131..25070744hg19UCSC Ensembl
Outerchr6:25177110..25178723hg18UCSC Ensembl
Outerchr6:25177110..25178723hg17UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3810759
hg1910759
hg1810759
hg1710759
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5228
Supporting Variants
SamplesNA19240
Known Genes
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)nssv533
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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