A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv233



Internal ID15383426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:50857780..50887906hg38UCSC Ensembl
Outerchr3:50895211..50925337hg19UCSC Ensembl
Outerchr3:50870215..50901282hg18UCSC Ensembl
Outerchr3:50870215..50901282hg17UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3830127
hg1930127
hg1831068
hg1731068
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv233
Supporting Variants
SamplesNA15510
Known GenesDOCK3
MethodSequencing
AnalysisFosmids were categorized as discordant if the in silico size was in excess of three standard deviations from the mean (<32 or 48> kb) and/or showed incorrect orientation of ends
PlatformCapillary
Comments
ReferenceTuzun_et_al_2005
Pubmed ID15895083
Accession Number(s)nssv233
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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