A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv300



Internal ID15545274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:50851467..50887906hg38UCSC Ensembl
Outerchr3:50888898..50925337hg19UCSC Ensembl
Outerchr3:50863902..50908409hg18UCSC Ensembl
Outerchr3:50863902..50908409hg17UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3836440
hg1936440
hg1844508
hg1744508
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7353
Supporting Variants
SamplesNA19240
Known GenesDOCK3
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)nssv300
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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