A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv273



Internal ID15383758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:90140591..90156020hg38UCSC Ensembl
Outerchr5:89436408..89451837hg19UCSC Ensembl
Outerchr5:89472164..89487593hg18UCSC Ensembl
Outerchr5:89472164..89487593hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg389905
hg199905
hg189905
hg179905
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv273
SamplesNA15510
Known Genes
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)nsv273
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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