A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000823



Internal ID16947089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:46350404..46389303hg38UCSC Ensembl
Outerchr22:46746301..46785200hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3838900
hg1938900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955177
Supporting Variants
SamplesBILGI_BIOE
Known GenesCELSR1, TRMU
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000823
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