A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999596



Internal ID17292548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:86042059..86063658hg38UCSC Ensembl
Outerchr11:85753101..85774700hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3821600
hg1921600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951049
Supporting Variants
SamplesBILGI_BIOE
Known GenesPICALM
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999596
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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