A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951289



Internal ID16953476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2547371..2551270hg38UCSC Ensembl
Outerchr11:2568601..2572500hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg383900
hg193900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998131
SamplesBILGI_BIOE
Known GenesKCNQ1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951289
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer