A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998153



Internal ID16944419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:14466055..14470654hg38UCSC Ensembl
Outerchr11:14487601..14492200hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg384600
hg194600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951311
Supporting Variants
SamplesBILGI_BIOE
Known GenesCOPB1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998153
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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