A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955180



Internal ID16957367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:47111205..47116504hg38UCSC Ensembl
Outerchr22:47507101..47512400hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg385300
hg195300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000826
SamplesBILGI_BIOE
Known GenesTBC1D22A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955180
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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