A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv288



Internal ID15383774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:103263583..103319658hg38UCSC Ensembl
Outerchr6:103711458..103767533hg19UCSC Ensembl
Outerchr6:103818151..103874226hg18UCSC Ensembl
Outerchr6:103818151..103874226hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3856076
hg1956076
hg1856076
hg1756076
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv288
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)nsv288
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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