A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955484



Internal ID16957671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17801141..17801424hg38UCSC Ensembl
Outerchr22:18283907..18284190hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3004400
SamplesBILGI_BIOE
Known GenesMICAL3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955484
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