A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv286



Internal ID15383772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:72087810..72106937hg38UCSC Ensembl
Outerchr6:72797513..72816640hg19UCSC Ensembl
Outerchr6:72854234..72873361hg18UCSC Ensembl
Outerchr6:72854234..72873361hg17UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg389070
hg199070
hg189070
hg179070
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv286
SamplesNA15510
Known GenesRIMS1
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)nsv286
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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