A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv282



Internal ID15037091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179652069..179681554hg38UCSC Ensembl
Outerchr5:179079070..179108555hg19UCSC Ensembl
Outerchr5:179011676..179041161hg18UCSC Ensembl
Outerchr5:179011676..179041161hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3829486
hg1929486
hg1829486
hg1729486
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv282
SamplesNA15510
Known GenesCBY3
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)nsv282
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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