A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv60



Internal ID15383531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1067274..1100709hg38UCSC Ensembl
Outerchr11:1067274..1094617hg19UCSC Ensembl
Outerchr11:1057274..1084617hg18UCSC Ensembl
Outerchr11:1057274..1084617hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3810188
hg1910188
hg1810188
hg1710188
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv60
Supporting Variants
SamplesNA15510
Known GenesMUC2
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)nssv60
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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